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
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605541	159605541	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:159605541G>A	ENST00000337808.6	+	5	1618	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	IQCJ-SCHIP1_ENST00000527095.1_Silent_p.E115E|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.E334E|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.E307E|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.E396E|SCHIP1_ENST00000445224.2_Silent_p.E104E|SCHIP1_ENST00000482804.1_Silent_p.E120E|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.E423E	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		347						cytoplasm	identical protein binding|protein binding	p.E347D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTACTGAAGAGGAGTCTGAAT	0.468000													89	114					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822449	43822449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:43822449C>T	ENST00000389420.3	-	25	3642	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D333N|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D1215N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1215	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTGACCAATCCCCTGCTTGC	0.348000													5	5					0	0	0.000602214	0	0
MUC17	140453	broad.mit.edu	37	7	100691326	100691326	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:100691326G>A	ENST00000306151.4	+	4	12529	c.12465G>A	c.(12463-12465)ggG>ggA	p.G4155G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4155	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGGGATGGGCTCAAGTGCC	0.547000													26	36					0	0	0.00127121	0	0
COL4A4	1286	broad.mit.edu	37	2	228004923	228004923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:228004923C>T	ENST00000396625.3	-	4	353	c.146G>A	c.(145-147)gGa>gAa	p.G49E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G49E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	49	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAATCTCTTCCTCCACAAGG	0.413000													26	41					0	0	0.0024448	0	0
ZNF267	10308	broad.mit.edu	37	16	31896570	31896570	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31896570C>T	ENST00000300870.10	+	3	428	c.219C>T	c.(217-219)atC>atT	p.I73I	ZNF267_ENST00000394846.3_Silent_p.I73I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAGTAGCCATCCAGCCAGGTA	0.483000													11	12					0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	40727103	40727103	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40727103G>A	ENST00000373198.3	-	28	4105	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N	PTPRT_ENST00000373187.1_Silent_p.N1268N|PTPRT_ENST00000373193.3_Silent_p.N1271N|PTPRT_ENST00000373201.1_Silent_p.N1258N|PTPRT_ENST00000373190.1_Silent_p.N1267N|PTPRT_ENST00000373184.1_Silent_p.N1278N|PTPRT_ENST00000356100.2_Silent_p.N1277N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1268	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGGAGCAGTTGTAATCGA	0.592000													77	33					0	0	0.000781405	0	0
C4orf36	132989	broad.mit.edu	37	4	87809342	87809342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:87809342G>A	ENST00000473559.1	-	6	815	c.152C>T	c.(151-153)tCa>tTa	p.S51L	C4orf36_ENST00000503001.1_5'UTR|C4orf36_ENST00000295898.3_Missense_Mutation_p.S51L			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	51										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ACCACCAAATGAAATTTCTTC	0.408000													29	49					0	0	0.00127121	0	0
TRIM49	57093	broad.mit.edu	37	11	89531642	89531642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:89531642C>T	ENST00000329758.1	-	8	1343	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	TRIM49_ENST00000532501.2_Missense_Mutation_p.G262S	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	339	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAATATTTGCCCGAGGTGAAA	0.428000													17	34					0	0	0.000878237	0	0
HEATR6	63897	broad.mit.edu	37	17	58145003	58145003	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:58145003G>T	ENST00000184956.6	-	8	1046	c.1030C>A	c.(1030-1032)Cca>Aca	p.P344T	HEATR6_ENST00000585976.1_Missense_Mutation_p.P344T	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	344							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCAGTGACTGGGGCTGCCTCT	0.483000													6	73					0.00116845	0.00439801	0.00116845	1	0
CDKL1	8814	broad.mit.edu	37	14	50807787	50807787	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:50807787C>T	ENST00000216378.2	-	6	1265	c.621G>A	c.(619-621)tcG>tcA	p.S207S	CDKL1_ENST00000356146.1_5'UTR|CDKL1_ENST00000395834.1_Silent_p.S207S			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	206	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GATCCACATCCGATTTTCCTG	0.542000													13	24					0	0	0.00244969	0	0
CILP	8483	broad.mit.edu	37	15	65490444	65490444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:65490444C>T	ENST00000261883.4	-	9	2346	c.2180G>A	c.(2179-2181)aGa>aAa	p.R727K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	727					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGGAAGGTTCTGTCTTCTCT	0.498000													52	100					0	0	0.000781405	0	0
TRO	7216	broad.mit.edu	37	X	54955515	54955515	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:54955515C>T	ENST00000173898.7	+	12	2470	c.2358C>T	c.(2356-2358)agC>agT	p.S786S	TRO_ENST00000420798.2_Silent_p.S317S|TRO_ENST00000375041.2_Silent_p.S389S|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	786	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTAGCTCCAGCTTCAGCAGCG	0.532000													27	9					0	0	0.00106085	0	0
TMEM245	23731	broad.mit.edu	37	9	111812631	111812631	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111812631G>A	ENST00000374586.3	-	14	2086	c.2055C>T	c.(2053-2055)agC>agT	p.S685S		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	685						integral to membrane											GTGGAGTCAGGCTTATCACCC	0.393000													17	28					0	0	0.00152264	0	0
PSG2	5670	broad.mit.edu	37	19	43585352	43585352	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:43585352C>T	ENST00000406487.1	-	2	209	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	37	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGCTTCAATCGTGACTTGGG	0.478000													38	115					0	0	0.00222228	0	0
TTC4	7268	broad.mit.edu	37	1	55188376	55188376	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:55188376C>T	ENST00000371281.3	+	5	585	c.498C>T	c.(496-498)caC>caT	p.H166H	MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	166							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AACTGAAACACTTTGCCGAGG	0.483000													42	55					0	0	0.000781405	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106621913	106621913	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:106621913G>A	ENST00000390604.2	-	0	405																											GTAATACACAGCCATGTCCTC	0.537000													36	43					0	0	0.000953801	0	0
XIRP2	129446	broad.mit.edu	37	2	168104861	168104861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168104861C>T	ENST00000409195.1	+	9	7048	c.6959C>T	c.(6958-6960)cCt>cTt	p.P2320L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2320L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2098L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2145					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGATGTTTCCTGAAAAAAAT	0.473000													23	22					0	0	0.00229938	0	0
LPHN2	23266	broad.mit.edu	37	1	82409110	82409110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:82409110G>A	ENST00000370728.1	+	8	1500	c.855G>A	c.(853-855)atG>atA	p.M285I	LPHN2_ENST00000394879.1_Missense_Mutation_p.M285I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M285I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M285I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M285I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M285I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M285I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M285I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M285I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M285I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M285I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.M285I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M289I|LPHN2_ENST00000370725.1_Missense_Mutation_p.M285I			O95490	LPHN2_HUMAN	latrophilin 2	285	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAATGGAATGATAGTTATTA	0.423000													14	17					0	0	0.00185496	0	0
GBP6	163351	broad.mit.edu	37	1	89851024	89851024	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:89851024T>C	ENST00000370456.4	+	11	1991	c.1898T>C	c.(1897-1899)tTt>tCt	p.F633S	GBP6_ENST00000535065.1_Missense_Mutation_p.F503S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	633							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAGCTCCCCTTTTAAGGATAT	0.333000													15	30					0	0	0.000566183	0	0
NALCN	259232	broad.mit.edu	37	13	101733962	101733962	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:101733962G>A	ENST00000251127.6	-	34	3882	c.3801C>T	c.(3799-3801)ggC>ggT	p.G1267G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1267						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGCCAGAAGCCAGCAGGCG	0.433000													17	26					0	0	0.000958276	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959842	157959842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:157959842G>A	ENST00000389413.3	-	6	794	c.691C>T	c.(691-693)Cct>Tct	p.P231S	PTPRN2_ENST00000389416.4_Missense_Mutation_p.P214S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P231S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.P254S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P193S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	231						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCACCTTAGGGCTGAGCTCA	0.697000													14	29					0	0	0.000422831	0	0
NRD1	4898	broad.mit.edu	37	1	52299747	52299747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:52299747C>T	ENST00000354831.7	-	6	1201	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.E206K|NRD1_ENST00000544028.1_Missense_Mutation_p.E138K|NRD1_ENST00000352171.7_Missense_Mutation_p.E270K	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	269					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAGTGCGTTCACAATCAGTT	0.373000													73	96					0	0	0.000781405	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630880	19630880	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:19630880C>T	ENST00000235835.3	-	7	940	c.918_splice	c.e7-1	p.G307_splice		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	307					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGGGCACCCTGCAAGGGA	0.642000													28	51					0	0	0.001512	0	0
CLDN11	5010	broad.mit.edu	37	3	170150514	170150514	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:170150514C>T	ENST00000064724.3	+	3	796	c.594C>T	c.(592-594)tcC>tcT	p.S198S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	198				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTCTAGCTCCCCGACTCATG	0.612000													27	43					0	0	0.00127121	0	0
SIMC1	375484	broad.mit.edu	37	5	175772292	175772292	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175772292G>A	ENST00000443967.1	+	12	2870	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	SIMC1_ENST00000341199.6_Silent_p.Q406Q|SIMC1_ENST00000430704.2_Silent_p.Q406Q|SIMC1_ENST00000332772.4_Silent_p.Q282Q					SUMO-interacting motifs containing 1																		TAGAGAAGCAGATTGAGGCCT	0.507000													21	42					0	0	0.00152264	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:45458398C>T	ENST00000548424.1	+	0	448																											TACCTGTTTTCCTTTGGCTCC	0.522000													7	11					0	0	0.000157383	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117365238	117365238	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:117365238T>C	ENST00000160373.3	-	18	4220	c.4129A>G	c.(4129-4131)Aaa>Gaa	p.K1377E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1377										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTGTCTTTTCACAGAGGCT	0.502000													76	127					0	0	0.000781405	0	0
PSMD13	5719	broad.mit.edu	37	11	244428	244428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:244428C>T	ENST00000532097.1	+	5	772	c.268C>T	c.(268-270)Cct>Tct	p.P90S	PSMD13_ENST00000352303.5_Missense_Mutation_p.P90S|PSMD13_ENST00000431206.2_Missense_Mutation_p.P92S	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	90					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|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	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTTTCCAGATCCTAATGTGGC	0.398000													21	34					0	0	0.00278032	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:54153116G>A	ENST00000404125.1	-	13	1693	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	546					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000													16	39					0	0	0.00229938	0	0
ZNF728	388523	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:23159540G>A	ENST00000594710.1	-	4	744	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ACTTTTGTAGGAATTCTCTCT	0.348000													5	11					0	0	0.000602214	0	0
C7orf69	80099	broad.mit.edu	37	7	47859110	47859110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:47859110C>T	ENST00000418326.2	+	4	340	c.227C>T	c.(226-228)aCc>aTc	p.T76I	PKD1L1_ENST00000289672.2_Intron|C7orf69_ENST00000258776.4_Missense_Mutation_p.T95I			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	95						extracellular region				lung(2)	2						CACAGCACCACCTACTGGCAC	0.418000													23	35					0	0	0.000586117	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278120	36278120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36278120C>T	ENST00000007510.4	+	21	2797	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P749S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P724S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	885					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCTCCTGCGCCCTGGGGGTGC	0.657000													16	30					0	0	0.00074312	0	0
SELE	6401	broad.mit.edu	37	1	169696892	169696892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:169696892G>A	ENST00000333360.7	-	9	1595	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P361S|SELE_ENST00000367782.4_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.P361S|SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P423S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.P423S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	486	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGGCAGGAAGGAACCTCTTCT	0.448000													43	98					0	0	0.000781405	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	C	T	rs151204927		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:58722282C>T	ENST00000300079.5	+	5	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000													21	35					0	0	0.00278032	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507258	74507258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:74507258C>T	ENST00000354431.4	-	7	1548	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.V453I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	453										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTACTCTAACTCTTTCTCGA	0.313000													52	87					0	0	0.000781405	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204015	19204015	+	Silent	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:19204015A>C	ENST00000375341.3	-	10	1289	c.1032T>G	c.(1030-1032)ggT>ggG	p.G344G	ALDH4A1_ENST00000538839.1_Silent_p.G344G|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.G284G|ALDH4A1_ENST00000290597.5_Silent_p.G344G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	344					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACTTCTGGCCACCGTACTCGA	0.647000													4	15					0	0	0.00024832	0	0
CSMD2	114784	broad.mit.edu	37	1	34286138	34286138	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:34286138G>A	ENST00000373381.4	-	8	1307	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	337	Sushi 2.					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)				TATGTCCTTGGGACACACCAA	0.438000													56	71					0	0	0.000781405	0	0
CFAP221	200373	broad.mit.edu	37	2	120369239	120369239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:120369239G>A	ENST00000602047.1	+	14	1486	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PCDP1_ENST00000413369.3_Missense_Mutation_p.G411E|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		411						cilium	calmodulin binding					Colorectal(110;0.196)					CTAGACAGAGGAGATCCTATT	0.328000													22	38					0	0	0.000586117	0	0
COL22A1	169044	broad.mit.edu	37	8	139642954	139642954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139642954C>T	ENST00000303045.6	-	50	4093	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1196E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1216	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTTGGATTCCTGGTGGTCC	0.473000										HNSCC(7;0.00092)			27	49					0	0	0.001512	0	0
UQCRC2	7385	broad.mit.edu	37	16	21979970	21979970	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:21979970C>A	ENST00000268379.4	+	8	1398	c.634C>A	c.(634-636)Cat>Aat	p.H212N	UQCRC2_ENST00000561553.1_Missense_Mutation_p.H212N	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	212					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CGTTCAGAACCATTTCACAAG	0.333000													7	169					0.000274275	0.00103803	0.000274275	1	0
ZC3H3	23144	broad.mit.edu	37	8	144550575	144550575	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:144550575G>A	ENST00000262577.5	-	7	2113	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	694					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCACCTTCTCGGGATCGTGGA	0.672000													6	5					0	0	0.00116845	0	0
RUFY2	55680	broad.mit.edu	37	10	70153803	70153803	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:70153803A>G	ENST00000342616.4	-	6	700	c.613T>C	c.(613-615)Ttg>Ctg	p.L205L	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000454950.2_Intron			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	0	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAAAAACCCAATATGTGAAAT	0.279000													4	4					0	0	0.00024832	0	0
CAPN11	11131	broad.mit.edu	37	6	44144023	44144023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:44144023C>T	ENST00000398776.1	+	9	987	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CAPN11_ENST00000542245.1_Missense_Mutation_p.R317W	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	317	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AACACTGATTCGGGTCCGGAA	0.587000													24	34					0	0	0.00209593	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120348	62120348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62120348G>A	ENST00000217182.3	-	7	1352	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	EEF1A2_ENST00000298049.7_Missense_Mutation_p.S396F	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	396						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCGTCTCCAGACTTCAGGGA	0.627000													25	73					0	0	0.00178596	0	0
PTPRT	11122	broad.mit.edu	37	20	40980811	40980811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40980811C>T	ENST00000373198.3	-	10	1910	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	PTPRT_ENST00000373187.1_Missense_Mutation_p.G559R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G559R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G559R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G559R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G559R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G559R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	559	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGGTGGTCCCTGGGTACAGA	0.562000													71	31					0	0	0.000781405	0	0
OR51F2	119694	broad.mit.edu	37	11	4842988	4842988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4842988G>A	ENST00000322110.5	+	1	438	c.373G>A	c.(373-375)Gag>Aag	p.E125K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTTTCATGGAGTCTGGGGT	0.463000													29	39					0	0	0.001512	0	0
IQCA1	79781	broad.mit.edu	37	2	237285791	237285791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:237285791C>T	ENST00000409907.3	-	13	1790	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	IQCA1_ENST00000309507.5_Missense_Mutation_p.G503R|IQCA1_ENST00000431676.2_Missense_Mutation_p.G465R			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	506							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATCAGTAATCCTTCTTCCACC	0.453000													27	51					0	0	0.001512	0	0
FAM47C	442444	broad.mit.edu	37	X	37029039	37029039	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:37029039C>T	ENST00000358047.3	+	1	2608	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	852										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGAGAAAACTCCGTGACTTCA	0.463000													55	14					0	0	0.000781405	0	0
OR2G3	81469	broad.mit.edu	37	1	247769751	247769751	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247769751C>T	ENST00000320002.2	+	1	896	c.864C>T	c.(862-864)atC>atT	p.I288I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAATCCTATCATCTATACTT	0.418000													24	74					0	0	0.000878237	0	0
XIRP2	129446	broad.mit.edu	37	2	168104863	168104863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168104863G>A	ENST00000409195.1	+	9	7050	c.6961G>A	c.(6961-6963)Gaa>Aaa	p.E2321K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2321K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2099K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2146					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTTCCTGAAAAAAATGG	0.468000													14	32					0	0	0.00074312	0	0
EPHA6	285220	broad.mit.edu	37	3	96706675	96706675	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96706675G>C	ENST00000389672.5	+	3	990	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	EPHA6_ENST00000470610.2_Missense_Mutation_p.V318L|EPHA6_ENST00000542517.1_Missense_Mutation_p.V224L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	223						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTCCAAGGGTTGATTCCTC	0.483000													43	70					0	0	0.000680045	0	0
COPS8	10920	broad.mit.edu	37	2	237994633	237994633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:237994633G>A	ENST00000354371.2	+	1	679	c.26G>A	c.(25-27)aGc>aAc	p.S9N	COPS8_ENST00000392008.2_5'UTR|COPS8_ENST00000409629.1_Missense_Mutation_p.S9N|COPS8_ENST00000409334.1_Missense_Mutation_p.S9N	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	9					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ATGGCGGAAAGCGCCTTTAGT	0.627000													8	9					0	0	0.000274275	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73067264	73067264	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:73067264C>T	ENST00000263674.3	+	6	4058	c.3708C>T	c.(3706-3708)ctC>ctT	p.L1236L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1236	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCATCCACTCCTGCTGGAGG	0.652000													12	15					0	0	0.00136819	0	0
CCDC158	339965	broad.mit.edu	37	4	77317607	77317607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:77317607G>A	ENST00000388914.3	-	3	255	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.R35C	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	35										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATTGTACCACGAATAGATGAC	0.318000													28	44					0	0	0.00283554	0	0
ABAT	18	broad.mit.edu	37	16	8862082	8862082	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:8862082C>T	ENST00000396600.2	+	10	1574	c.636C>T	c.(634-636)tcC>tcT	p.S212S	ABAT_ENST00000569156.1_Silent_p.S212S|ABAT_ENST00000425191.2_Silent_p.S212S|ABAT_ENST00000268251.8_Silent_p.S212S|ABAT_ENST00000567812.1_Silent_p.S227S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	212					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GCATCCTCTCCTTCATGGGCG	0.517000													43	53					0	0	0.000781405	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117965569	117965569	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:117965569C>T	ENST00000534111.1	+	2	301	c.37_splice	c.e2+1	p.L12_splice	TMPRSS4_ENST00000437212.3_Splice_Site_p.L14_splice|TMPRSS4_ENST00000523251.1_Splice_Site_p.L12_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.L14_splice|TMPRSS4_ENST00000522307.1_5'UTR	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	14					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGAACAGCCTCGGTAAGTTCA	0.542000													5	23					0	0	0.000602214	0	0
ZNF362	149076	broad.mit.edu	37	1	33764608	33764608	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:33764608G>A	ENST00000539719.1	+	9	1394	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	ZNF362_ENST00000373428.5_Silent_p.T408T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCAGAGGACGGAGTCCCCCG	0.642000											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	24					0	0	0.000878237	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:20048070G>A	ENST00000400230.2	-	6	420	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R126*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R89*|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R89*|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000													37	49					0	0	0.000692331	0	0
FERD3L	222894	broad.mit.edu	37	7	19184901	19184901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:19184901G>A	ENST00000275461.3	-	1	143	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	29					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCGCAGAGGAGAGGGCGTCTC	0.682000													11	25					0	0	0.00185496	0	0
MYCBP2	23077	broad.mit.edu	37	13	77635390	77635390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:77635390C>T	ENST00000407578.2	-	76	13216	c.12950G>A	c.(12949-12951)gGt>gAt	p.G4317D	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G4279D|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G4279D	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTACCACAACCTTCATGAAG	0.363000													15	33					0	0	0.000308642	0	0
KIF1B	23095	broad.mit.edu	37	1	10383972	10383972	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:10383972A>G	ENST00000377086.1	+	25	2591	c.2389A>G	c.(2389-2391)Aca>Gca	p.T797A	KIF1B_ENST00000263934.6_Missense_Mutation_p.T751A|KIF1B_ENST00000377081.1_Missense_Mutation_p.T797A			O60333	KIF1B_HUMAN	kinesin family member 1B	797					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGACTGACACACTGTACTC	0.443000													33	60					0	0	0.00128727	0	0
NAA20	51126	broad.mit.edu	37	20	19998633	19998633	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:19998633A>T	ENST00000398602.2	+	0	600				NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_Intron|NAA20_ENST00000334982.4_Intron	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit							cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						TTGTATCCAAATGAAATGACA	0.537000													38	100					0	0	0.0025221	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643030	1643030	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:1643030C>T	ENST00000399682.1	-	1	338	c.294G>A	c.(292-294)aaG>aaA	p.K98K		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	98	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAACCCC	0.682000													8	51					0	0	0.000274275	0	0
CES4A	283848	broad.mit.edu	37	16	67029612	67029612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:67029612C>T	ENST00000540947.2	+	2	324	c.140C>T	c.(139-141)cCc>cTc	p.P47L	CES4A_ENST00000326686.5_Missense_Mutation_p.P47L|CES4A_ENST00000541479.1_Missense_Mutation_p.P70L|CES4A_ENST00000398354.1_Missense_Mutation_p.P47L|CES4A_ENST00000338718.4_Missense_Mutation_p.P70L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	47						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GGGAAGACACCCATCCAAGTC	0.522000													32	40					0	0	0.00058488	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045054	55045054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55045054G>A	ENST00000335056.3	+	3	212	c.174G>A	c.(172-174)tgG>tgA	p.W58*																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTGTCATATGGACAATATTCC	0.547000													9	26					0	0	0.000274275	0	0
XIRP2	129446	broad.mit.edu	37	2	168101155	168101155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168101155G>A	ENST00000409195.1	+	9	3342	c.3253G>A	c.(3253-3255)Gat>Aat	p.D1085N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1085N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D863N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	910					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAAACTAGAGATATTGTTAA	0.353000													13	16					0	0	0.00244969	0	0
C20orf26	26074	broad.mit.edu	37	20	20037439	20037439	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:20037439C>T	ENST00000245957.5	+	2	218	c.143_splice	c.e2+1	p.L48_splice	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Splice_Site_p.L48_splice|C20orf26_ENST00000377306.1_Splice_Site_p.L48_splice|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	48										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATCTATCTTCTGTAAGTAGA	0.388000													38	61					0	0	0.00128727	0	0
OR2T4	127074	broad.mit.edu	37	1	248525769	248525769	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248525769C>G	ENST00000366475.1	+	1	887	c.887C>G	c.(886-888)tCc>tGc	p.S296C		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S296F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCCAGCTCCTACCACACC	0.517000													64	55					0	0	0.000781405	0	0
RAI14	26064	broad.mit.edu	37	5	34823975	34823975	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:34823975C>T	ENST00000265109.3	+	15	2315	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	RAI14_ENST00000397449.1_Silent_p.I669I|RAI14_ENST00000506376.1_Silent_p.I668I|RAI14_ENST00000515799.1_Silent_p.I679I|RAI14_ENST00000512629.1_Silent_p.I647I|RAI14_ENST00000428746.2_Silent_p.I676I|RAI14_ENST00000503673.1_Silent_p.I676I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	676						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGAATATATCCATAAAGCAG	0.448000													23	37					0	0	0.000720815	0	0
ACAP3	116983	broad.mit.edu	37	1	1236057	1236057	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:1236057G>A	ENST00000354700.5	-	6	556	c.354C>T	c.(352-354)ttC>ttT	p.F118F	ACAP3_ENST00000353662.3_Silent_p.F76F	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	118					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTGTCTCCTTGAACTTCCGCA	0.617000													20	31					0	0	0.00278032	0	0
UBTD2	92181	broad.mit.edu	37	5	171639158	171639158	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:171639158G>A	ENST00000393792.2	-	3	786	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	127						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTATCATGTTGATTGGCGGTG	0.453000													33	53					0	0	0.00058488	0	0
PTPRT	11122	broad.mit.edu	37	20	41419904	41419904	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:41419904G>A	ENST00000373198.3	-	3	652	c.417C>T	c.(415-417)tcC>tcT	p.S139S	PTPRT_ENST00000373187.1_Silent_p.S139S|PTPRT_ENST00000373193.3_Silent_p.S139S|PTPRT_ENST00000373201.1_Silent_p.S139S|PTPRT_ENST00000373190.1_Silent_p.S139S|PTPRT_ENST00000373184.1_Silent_p.S139S|PTPRT_ENST00000356100.2_Silent_p.S139S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	139	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGACGACCCCGGACACATTCC	0.532000													35	94					0	0	0.000953801	0	0
FRAS1	80144	broad.mit.edu	37	4	79396646	79396646	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:79396646G>A	ENST00000264895.6	+	54	8177	c.7737G>A	c.(7735-7737)ggG>ggA	p.G2579G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2578	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGAGGACTGGGAACCTGAACC	0.547000													22	40					0	0	0.00152264	0	0
SERPINB10	5273	broad.mit.edu	37	18	61597398	61597398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61597398G>A	ENST00000238508.3	+	6	669	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAACACCACAGAAAAGCCTTT	0.373000													20	33					0	0	0.000720815	0	0
OR5K1	26339	broad.mit.edu	37	3	98189267	98189267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:98189267C>T	ENST00000332650.5	+	1	944	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATAGTAGTTCCCTTACTAAA	0.308000													15	19					0	0	0.00074312	0	0
LIPI	149998	broad.mit.edu	37	21	15538721	15538721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:15538721C>T	ENST00000344577.2	-	5	783	c.758G>A	c.(757-759)gGa>gAa	p.G253E	LIPI_ENST00000536861.1_Missense_Mutation_p.G232E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	232					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G253E(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGTTTATTTCCTCCATTTGG	0.343000													27	57					0	0	0.0024448	0	0
FOLR3	2352	broad.mit.edu	37	11	71847002	71847002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:71847002G>A	ENST00000456237.1	+	2	54	c.4G>A	c.(4-6)Gac>Aac	p.D2N	FOLR3_ENST00000445078.2_5'UTR|FOLR3_ENST00000442948.2_Missense_Mutation_p.D2N			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	0					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGAATAGATGGACATGGCCTG	0.607000													30	83					0	0	0.00111076	0	0
NUP210L	91181	broad.mit.edu	37	1	154072489	154072489	+	Silent	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:154072489A>C	ENST00000368559.3	-	14	2021	c.1950T>G	c.(1948-1950)gcT>gcG	p.A650A	NUP210L_ENST00000271854.3_Silent_p.A650A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	650						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGGGTTCATAAGCAGCAAATG	0.408000													106	109					0	0	0.000781405	0	0
LINGO2	158038	broad.mit.edu	37	9	27949714	27949714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:27949714C>T	ENST00000379992.2	-	6	1405	c.956G>A	c.(955-957)gGg>gAg	p.G319E	LINGO2_ENST00000308675.3_Missense_Mutation_p.G319E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	319						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAGCGGAGCCCTTGGAAGGA	0.537000													21	51					0	0	0.00278032	0	0
DCC	1630	broad.mit.edu	37	18	50866115	50866115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:50866115C>T	ENST00000442544.2	+	15	2813	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	DCC_ENST00000412726.1_Missense_Mutation_p.H581Y|DCC_ENST00000581580.1_Missense_Mutation_p.H388Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	733	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGCTCTCTTCATGTGAGGCC	0.458000													21	27					0	0	0.00047179	0	0
TCL6	27004	broad.mit.edu	37	14	96135799	96135799	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:96135799C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		atctcctgacctcgtgatccg	0.473000			T	TRA@	T-ALL								4	3					0	0	0.00024832	0	0
MED1	5469	broad.mit.edu	37	17	37580045	37580045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:37580045G>A	ENST00000300651.6	-	12	1104	c.881C>T	c.(880-882)gCc>gTc	p.A294V	MED1_ENST00000394287.3_Missense_Mutation_p.A294V	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	294	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AACACTGTTGGCACTGGTGAT	0.428000										HNSCC(31;0.082)			16	56					0	0	0.000958276	0	0
KTN1	3895	broad.mit.edu	37	14	56133973	56133973	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:56133973G>A	ENST00000416613.1	+	33	3264	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	KTN1_ENST00000395311.1_Silent_p.Q1041Q|KTN1_ENST00000438792.2_Silent_p.Q1035Q|KTN1_ENST00000395308.1_Silent_p.Q1041Q|KTN1_ENST00000555573.1_Silent_p.Q69Q|KTN1_ENST00000395309.3_Silent_p.Q1064Q|KTN1_ENST00000413890.2_Silent_p.Q1041Q|KTN1_ENST00000395314.3_Silent_p.Q1064Q|KTN1_ENST00000554507.1_Silent_p.Q330Q			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1064					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GGCAGCAACAGGTGGAAGCTG	0.308000			T	RET	papillary thryoid								28	36					0	0	0.00283554	0	0
ZBED1	9189	broad.mit.edu	37	X	2406784	2406784	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:2406784G>T	ENST00000381223.4	-	2	2180	c.1977C>A	c.(1975-1977)ccC>ccA	p.P659P	RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Silent_p.P659P|ZBED1_ENST00000381222.2_Silent_p.P659P|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	659						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCCTCGGGTTCCGCCT	0.652000													5	90					0.00198382	0.0074215	0.00198382	1	0
CASC4	113201	broad.mit.edu	37	15	44673052	44673052	+	Missense_Mutation	SNP	C	C	T	rs150204732		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:44673052C>T	ENST00000299957.6	+	8	1249	c.950C>T	c.(949-951)cCt>cTt	p.P317L	CASC4_ENST00000345795.2_Missense_Mutation_p.P317L|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	317						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AAACAGAATCCTTCCAGTCCT	0.363000													23	29					0	0	0.00178596	0	0
C17orf47	284083	broad.mit.edu	37	17	56620267	56620267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:56620267C>T	ENST00000321691.3	-	1	1462	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	427										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAAGGGCCACCATGAGGAGT	0.532000													96	65					0	0	0.000781405	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													5	58					0	0	0.000602214	0	0
OTOGL	283310	broad.mit.edu	37	12	80722851	80722851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:80722851G>A	ENST00000458043.2	+	36	4279	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1425K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GATTCCCACAGAACCAACATT	0.353000													4	13					0	0	0.00198382	0	0
PCSK5	5125	broad.mit.edu	37	9	78682918	78682918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:78682918C>T	ENST00000545128.1	+	6	1218	c.680C>T	c.(679-681)tCg>tTg	p.S227L	PCSK5_ENST00000376752.4_Missense_Mutation_p.S227L|PCSK5_ENST00000376767.3_Missense_Mutation_p.S227L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	227	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCAAACAATTCGCACTGCACA	0.512000													54	70					0	0	0.000781405	0	0
ITGAD	3681	broad.mit.edu	37	16	31422778	31422778	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31422778G>A	ENST00000389202.2	+	14	1696	c.1647G>A	c.(1645-1647)cgG>cgA	p.R549R		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	549					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGAGAACCGGGGTGCTGTCT	0.622000													43	89					0	0	0.000781405	0	0
PDE1C	5137	broad.mit.edu	37	7	31887694	31887694	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:31887694G>A	ENST00000396184.3	-	10	1072	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	PDE1C_ENST00000396193.1_Silent_p.L350L|PDE1C_ENST00000396191.1_Silent_p.L290L|PDE1C_ENST00000396182.2_Silent_p.L290L|PDE1C_ENST00000321453.7_Silent_p.L290L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	290	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCATTATACAGAATAGCTGGA	0.388000													19	21					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9090722	9090722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9090722G>A	ENST00000397910.4	-	1	1296	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	365	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAAGGTAAGGATAGTCTCT	0.498000													9	13					0	0	0.000274275	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152182	151152182	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:151152182C>T	ENST00000367328.1	+	16	2247	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	PLEKHG1_ENST00000358517.2_Silent_p.P645P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	645					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P645P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGATGACTCCCTTTGGGTCAT	0.458000													6	2					0	0	0.000157383	0	0
PDILT	204474	broad.mit.edu	37	16	20380929	20380929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:20380929G>A	ENST00000302451.4	-	8	1249	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	334					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGGACGGATGGGATATCGAC	0.468000													52	69					0	0	0.000781405	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087096	39087096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:39087096C>T	ENST00000400482.3	-	3	953	c.364G>A	c.(364-366)Gac>Aac	p.D122N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.D122N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	122					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTATGTGGTCCATGTCTCCC	0.448000													29	50					0	0	0.001512	0	0
MYO18B	84700	broad.mit.edu	37	22	26422964	26422964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:26422964G>A	ENST00000335473.7	+	43	7274	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2343K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2342K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2342						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTACTCCCCGAAAAGTCGAA	0.562000													27	33					0	0	0.00106085	0	0
GCM1	8521	broad.mit.edu	37	6	52993656	52993656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:52993656C>T	ENST00000259803.7	-	6	870	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	220						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TATTAAATGTCCACTGTAACT	0.443000													38	49					0	0	0.00148497	0	0
THADA	63892	broad.mit.edu	37	2	43519318	43519318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:43519318G>A	ENST00000405006.4	-	33	5213	c.4862C>T	c.(4861-4863)cCc>cTc	p.P1621L	THADA_ENST00000415080.2_Missense_Mutation_p.P1302L|THADA_ENST00000405975.2_Missense_Mutation_p.P1621L|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1621							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCCGTCTGGGGAAGCCACTC	0.478000													122	228					0	0	0.000781405	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870638	51870638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:51870638G>A	ENST00000371497.5	+	2	1528	c.641G>A	c.(640-642)aGa>aAa	p.R214K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R211K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R211K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	214					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGGGCCAGCAGATTCCGATGC	0.562000													12	47					0	0	0.00136819	0	0
SCN11A	11280	broad.mit.edu	37	3	38991643	38991643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38991643G>A	ENST00000302328.3	-	1	409	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R71C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R71C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R71C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	71					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCTCACGAGGAATGTCG	0.552000													46	103					0	0	0.000781405	0	0
RBM14	10432	broad.mit.edu	37	11	66393940	66393940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:66393940C>T	ENST00000310137.4	+	3	1950	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Missense_Mutation_p.P153S|RBM14_ENST00000409738.4_Missense_Mutation_p.P116S|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	604					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGTATGGTTCCGACCGGCGT	0.572000													41	52					0	0	0.000781405	0	0
CMYA5	202333	broad.mit.edu	37	5	79029566	79029566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:79029566C>T	ENST00000446378.2	+	2	5009	c.4978C>T	c.(4978-4980)Ccc>Tcc	p.P1660S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1660						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCAAAGTCTCCCATAACTGA	0.413000													12	18					0	0	0.00136819	0	0
HMHA1	23526	broad.mit.edu	37	19	1068597	1068597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:1068597G>A	ENST00000313093.2	+	2	506	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	HMHA1_ENST00000586866.1_Missense_Mutation_p.R96Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.R119Q|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Missense_Mutation_p.R108Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	92					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGCCACCGGAGCCCACTG	0.746000													9	11					0	0	0.000673444	0	0
VPS13B	157680	broad.mit.edu	37	8	100844872	100844872	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:100844872C>T	ENST00000358544.2	+	52	9792	c.9681C>T	c.(9679-9681)ttC>ttT	p.F3227F	VPS13B_ENST00000357162.2_Silent_p.F3202F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3227					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAATGGATTCTGTACCAGGT	0.463000													17	27					0	0	0.000958276	0	0
NAB2	4665	broad.mit.edu	37	12	57485290	57485290	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:57485290C>A	ENST00000300131.3	+	2	844	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	NAB2_ENST00000342556.6_Missense_Mutation_p.R156S|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.R156S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	156					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCAGTGCCCGCAGTTTTAG	0.632000													6	40					0.00198382	0.0074215	0.00198382	1	0
DOCK2	1794	broad.mit.edu	37	5	169508871	169508871	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:169508871C>T	ENST00000256935.8	+	51	5393	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.I832I|DOCK2_ENST00000520908.1_Silent_p.I1263I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1771					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGCAGGCATCCCTGGGTTGG	0.602000													14	26					0	0	0.000308642	0	0
TJP2	9414	broad.mit.edu	37	9	71852826	71852826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:71852826C>T	ENST00000377245.4	+	15	2420	c.2212C>T	c.(2212-2214)Ccc>Tcc	p.P738S	TJP2_ENST00000539225.1_Missense_Mutation_p.P769S|TJP2_ENST00000453658.2_Missense_Mutation_p.P715S|TJP2_ENST00000535702.1_Missense_Mutation_p.P742S|TJP2_ENST00000265384.7_Missense_Mutation_p.P738S|TJP2_ENST00000348208.4_Missense_Mutation_p.P738S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	738	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTTATTCGGCCCCATAGCTGA	0.388000													14	33					0	0	0.000566183	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354564	42354564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:42354564C>T	ENST00000596827.1	+	7	1026	c.940C>T	c.(940-942)Cca>Tca	p.P314S	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCGGGGGTTCCCAGTCTGCTT	0.617000													17	22					0	0	0.00229938	0	0
ZNF627	199692	broad.mit.edu	37	19	11728022	11728022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:11728022C>T	ENST00000361113.5	+	4	912	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCAGTTGTTCCAGTTACATT	0.393000													8	16					0	0	0.000157383	0	0
ABCA6	23460	broad.mit.edu	37	17	67110993	67110993	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:67110993G>A	ENST00000284425.2	-	13	1866	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	564	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.F564L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTGAACATTGAATTGAGGAC	0.383000													14	33					0	0	0.00185496	0	0
FAM83C	128876	broad.mit.edu	37	20	33874858	33874858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33874858G>A	ENST00000374408.3	-	4	1820	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	575										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCGATCACCAGGTCTGAGGGA	0.637000													12	64					0	0	0.000978159	0	0
SSH1	54434	broad.mit.edu	37	12	109186549	109186549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109186549G>A	ENST00000326495.5	-	14	1499	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	SSH1_ENST00000551165.1_Missense_Mutation_p.P469L|SSH1_ENST00000360239.3_Missense_Mutation_p.P157L|SSH1_ENST00000326470.5_Missense_Mutation_p.P480L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	469					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCATCCACAGGCTGCTGGAG	0.637000													15	21					0	0	0.000422831	0	0
ADAM32	203102	broad.mit.edu	37	8	39080726	39080726	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39080726C>T	ENST00000379907.4	+	14	1621	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	ADAM32_ENST00000437682.2_Silent_p.L399L|ADAM32_ENST00000519315.1_Silent_p.L392L	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	498	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GCCATGATCTCGATGCACGTT	0.353000													10	9					0	0	0.000978159	0	0
LNPEP	4012	broad.mit.edu	37	5	96315503	96315503	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:96315503C>T	ENST00000231368.5	+	2	1373	c.681C>T	c.(679-681)agC>agT	p.S227S	LNPEP_ENST00000395770.3_Silent_p.S213S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	227					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAGTTTCAAGCCAAGAAAAAC	0.423000													9	9					0	0	0.00136819	0	0
CCM2L	140706	broad.mit.edu	37	20	30617631	30617631	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:30617631C>T	ENST00000300415.8	+	9	1405	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR					cerebral cavernous malformation 2-like																		GGCGCAAGTTCCTCCTCCTTG	0.622000													22	13					0	0	0.00188189	0	0
CCKBR	887	broad.mit.edu	37	11	6292321	6292321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6292321C>T	ENST00000525462.1	+	4	1102	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	CCKBR_ENST00000334619.2_Missense_Mutation_p.P298S|CCKBR_ENST00000532715.1_Missense_Mutation_p.P214S|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	298					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGTGCAACTTCCACGTTCCCG	0.687000													31	61					0	0	0.00283554	0	0
TRMT44	152992	broad.mit.edu	37	4	8477615	8477615	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8477615T>C	ENST00000389737.4	+	11	2161	c.2161T>C	c.(2161-2163)Ttc>Ctc	p.F721L	TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		CCTCTGCTGGTTCTTCATGCA	0.617000													57	77					0	0	0.000781405	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239618	1239618	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:1239618C>T	ENST00000324642.3	+	6	909	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLC6A18_ENST00000296821.4_Silent_p.F257F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGATATTCTTCTCTCTGT	0.577000													38	68					0	0	0.00285205	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232276	12232276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:12232276C>T	ENST00000266434.4	+	2	232	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	BCL2L14_ENST00000396369.1_Missense_Mutation_p.P13S|BCL2L14_ENST00000396367.1_Missense_Mutation_p.P13S|BCL2L14_ENST00000308721.5_Missense_Mutation_p.P13S|BCL2L14_ENST00000586576.1_Missense_Mutation_p.P46S|BCL2L14_ENST00000589718.1_Missense_Mutation_p.P13S	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	13					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGAAGAAATCCCCCTAGATGA	0.488000													30	45					0	0	0.0024448	0	0
HMX3	340784	broad.mit.edu	37	10	124896587	124896587	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:124896587C>T	ENST00000357878.5	+	2	503	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	138					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGGAGAAGGCCTTGCTGAGAG	0.672000													7	4					0	0	0.000157383	0	0
HSD3B2	3284	broad.mit.edu	37	1	119962127	119962127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:119962127G>A	ENST00000543831.1	+	3	478	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V77I|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	77					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGACGTCTCGGTCGTCATCCA	0.502000													11	22					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179643790	179643790	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179643790T>C	ENST00000589042.1	-	24	4243	c.4019A>G	c.(4018-4020)gAc>gGc	p.D1340G	TTN_ENST00000359218.5_Missense_Mutation_p.D1294G|TTN_ENST00000360870.5_Missense_Mutation_p.D1340G|TTN_ENST00000460472.2_Missense_Mutation_p.D1294G|TTN_ENST00000591111.1_Missense_Mutation_p.D1340G|TTN_ENST00000342175.6_Missense_Mutation_p.D1294G|TTN_ENST00000342992.6_Missense_Mutation_p.D1340G|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1340	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAGAAAGTCCATTTGGTA	0.378000													10	13					0	0	0.000673444	0	0
FGFR4	2264	broad.mit.edu	37	5	176522441	176522441	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:176522441G>A	ENST00000292408.4	+	12	1875	c.1630_splice	c.e12+1	p.G544_splice	FGFR4_ENST00000393637.1_Splice_Site_p.G504_splice|FGFR4_ENST00000292410.3_Splice_Site_p.G504_splice|FGFR4_ENST00000393648.2_Splice_Site_p.G476_splice|FGFR4_ENST00000502906.1_Splice_Site_p.G544_splice	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	544	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CACCCAGGAAGGTGGGGCCGA	0.637000										TSP Lung(9;0.080)			22	30					0	0	0.00047179	0	0
DSP	1832	broad.mit.edu	37	6	7585335	7585335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:7585335G>A	ENST00000379802.3	+	24	8181	c.7840G>A	c.(7840-7842)Gaa>Aaa	p.E2614K	DSP_ENST00000418664.2_Missense_Mutation_p.E2015K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2614	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGACACCCTGGAAGAATCGAG	0.463000													26	50					0	0	0.00178596	0	0
C17orf66	256957	broad.mit.edu	37	17	34192286	34192286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:34192286C>T	ENST00000311880.2	-	3	401	c.253G>A	c.(253-255)Gac>Aac	p.D85N	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.D85N	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	85							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCATACAGGTCGTGCCAGTGC	0.512000													22	61					0	0	0.001512	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331326	82331326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:82331326G>A	ENST00000339284.2	+	3	917	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	SH2D4B_ENST00000313455.4_Missense_Mutation_p.E114K|SH2D4B_ENST00000470604.2_Missense_Mutation_p.E162K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	162	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CATCCACGAGGAATTCAAGGT	0.592000													28	37					0	0	0.000814825	0	0
MMEL1	79258	broad.mit.edu	37	1	2524136	2524136	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:2524136C>T	ENST00000288709.6	-	21	2238	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	MMEL1_ENST00000378412.3_Silent_p.G675G|MMEL1_ENST00000502556.1_Silent_p.G518G	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	675					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAATGTTTTCCCCAAGGGTGT	0.687000													11	18					0	0	0.00136819	0	0
MTTP	4547	broad.mit.edu	37	4	100532325	100532325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:100532325G>A	ENST00000457717.1	+	14	2051	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MTTP_ENST00000511045.1_Missense_Mutation_p.E626K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.E599K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	599	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTTCTGAAGGAAATGGTCGC	0.398000													37	32					0	0	0.00285205	0	0
FAM83C	128876	broad.mit.edu	37	20	33874859	33874859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33874859G>A	ENST00000374408.3	-	4	1819	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	575										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGATCACCAGGTCTGAGGGAA	0.632000													12	63					0	0	0.000978159	0	0
GALNT8	26290	broad.mit.edu	37	12	4855410	4855410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:4855410G>A	ENST00000252318.2	+	6	1496	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	387	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGAGAACGTGGAGCTTAGCCT	0.498000													27	27					0	0	0.0024448	0	0
THBD	7056	broad.mit.edu	37	20	23028577	23028577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:23028577G>A	ENST00000377103.2	-	1	1801	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	522					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GCTCGCGATGGAGATGCCTAT	0.692000													4	8					0	0	0.00116845	0	0
GLDC	2731	broad.mit.edu	37	9	6534758	6534758	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:6534758A>G	ENST00000321612.6	-	24	3019	c.2869T>C	c.(2869-2871)Tct>Cct	p.S957P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	957					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTGGGAAGATGTAACGCAG	0.557000													12	22					0	0	0.00244969	0	0
YPEL1	29799	broad.mit.edu	37	22	22057767	22057767	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:22057767C>T	ENST00000339468.3	-	4	545	c.161_splice	c.e4-1	p.V54_splice		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	54						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCACGTTCACCCTGCGGGGAC	0.701000													16	30					0	0	0.00074312	0	0
CCDC73	493860	broad.mit.edu	37	11	32705120	32705120	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:32705120C>T	ENST00000531481.1	-	7	667	c.390_splice	c.e7-1	p.V131_splice	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Splice_Site_p.V131_splice			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	131										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATTTAGAAACCTTGAAAAAT	0.323000													13	31					0	0	0.000308642	0	0
DDX10	1662	broad.mit.edu	37	11	108549097	108549097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108549097C>T	ENST00000526794.1	+	5	625	c.593C>T	c.(592-594)cCa>cTa	p.P198L	DDX10_ENST00000322536.3_Missense_Mutation_p.P198L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	198	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGTGCACACCAGGTCGGCTT	0.353000			T	NUP98	AML*								19	39					0	0	0.00188189	0	0
PTTG2	10744	broad.mit.edu	37	4	37962083	37962083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:37962083G>A	ENST00000504686.1	+	1	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	10					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						CGTTGATAAGGAAATTGGAGA	0.438000													10	28					0	0	0.000673444	0	0
HCFC2	29915	broad.mit.edu	37	12	104497010	104497010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104497010C>T	ENST00000229330.4	+	15	2442	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	780	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.R780W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACACAAGTTCGGTGGCTTCA	0.358000													25	43					0	0	0.000586117	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25757077	25757077	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:25757077G>A	ENST00000586223.1	+	0	1911					NR_033892.1																						TTCCTGCAGTGGAACTCTATG	0.627000													3	4					0	0	0.000602214	0	0
HTR1E	3354	broad.mit.edu	37	6	87725508	87725508	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:87725508C>T	ENST00000305344.4	+	2	1159	c.456C>T	c.(454-456)ttC>ttT	p.F152F	HTR1E_ENST00000369584.1_Silent_p.F152F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	152					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCCATTTTCATCTCCATGC	0.552000													26	11					0	0	0.00106085	0	0
BCL6	604	broad.mit.edu	37	3	187447572	187447572	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:187447572G>A	ENST00000406870.2	-	5	987	c.621C>T	c.(619-621)ctC>ctT	p.L207L	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.L207L|BCL6_ENST00000232014.4_Silent_p.L207L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	207					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATCGGAGAAGAGGAGGCTGC	0.617000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								13	18					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9077737	9077737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9077737G>A	ENST00000397910.4	-	3	9912	c.9709C>T	c.(9709-9711)Ccc>Tcc	p.P3237S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3238	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCCATGGGAACAGTTGTT	0.527000													35	70					0	0	0.000814825	0	0
BRDT	676	broad.mit.edu	37	1	92459696	92459696	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:92459696C>T	ENST00000370389.2	+	15	2877	c.1953C>T	c.(1951-1953)acC>acT	p.T651T	BRDT_ENST00000402388.1_Silent_p.T724T|BRDT_ENST00000362005.3_Silent_p.T724T|BRDT_ENST00000399546.2_Silent_p.T724T|BRDT_ENST00000394530.3_Silent_p.T678T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	724	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCATCAGACCACACCTTCAC	0.338000													33	67					0	0	0.000814825	0	0
FAM135B	51059	broad.mit.edu	37	8	139165277	139165277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139165277C>T	ENST00000395297.1	-	13	1611	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	481								p.E481*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACCTGGCTCTGGACACCTT	0.393000										HNSCC(54;0.14)			23	36					0	0	0.001512	0	0
CSMD3	114788	broad.mit.edu	37	8	113662482	113662482	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:113662482A>T	ENST00000297405.5	-	19	3345	c.3101T>A	c.(3100-3102)tTt>tAt	p.F1034Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.F1034Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F994Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F930Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1034	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCACAACTAAATGAAACAGT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	53					0	0	0.000781405	0	0
MYOM2	9172	broad.mit.edu	37	8	2021490	2021490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:2021490C>T	ENST00000262113.4	+	10	1171	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	344	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCCTTCAGCCACCTGCACAA	0.592000													26	13					0	0	0.000878237	0	0
SV2B	9899	broad.mit.edu	37	15	91795187	91795187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:91795187G>A	ENST00000394232.1	+	3	1060	c.590G>A	c.(589-591)gGa>gAa	p.G197E	SV2B_ENST00000545111.2_Missense_Mutation_p.G46E|SV2B_ENST00000330276.4_Missense_Mutation_p.G197E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	197					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGTGCAGGGATATGGAGCC	0.577000													80	119					0	0	0.000781405	0	0
RBP3	5949	broad.mit.edu	37	10	48389177	48389177	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:48389177C>T	ENST00000224600.4	-	1	1814	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	567	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGCGGTGATCTCACCTACCA	0.667000													15	26					0	0	0.000422831	0	0
DTWD2	285605	broad.mit.edu	37	5	118176690	118176690	+	Silent	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:118176690T>G	ENST00000304058.4	-	6	691	c.621A>C	c.(619-621)ggA>ggC	p.G207G	DTWD2_ENST00000510708.1_Silent_p.G273G|DTWD2_ENST00000515439.3_Silent_p.G177G			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	273										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGGATATAATCCATTTTTCA	0.383000													20	23					0	0	0.00121646	0	0
CMYA5	202333	broad.mit.edu	37	5	79032381	79032381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:79032381C>T	ENST00000446378.2	+	2	7824	c.7793C>T	c.(7792-7794)tCa>tTa	p.S2598L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2598						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTGAAAAATCAGAAGCCATG	0.403000													12	23					0	0	0.00185496	0	0
SRMS	6725	broad.mit.edu	37	20	62175632	62175632	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62175632C>T	ENST00000217188.1	-	2	466	c.426G>A	c.(424-426)ggG>ggA	p.G142G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	142	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGAGGAAGGCCCCTGGTTCGT	0.667000													8	2					0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	114111174	114111174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:114111174C>T	ENST00000297405.5	-	5	972	c.728G>A	c.(727-729)gGa>gAa	p.G243E	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.G243E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G203E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G243E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	243	CUB 2.					integral to membrane|plasma membrane		p.G203E(1)|p.G243E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTCATTGTTCCTCCACAAGC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	8					0	0	0.000442599	0	0
DDX10	1662	broad.mit.edu	37	11	108712144	108712144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108712144C>T	ENST00000526794.1	+	15	2220	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.Q730*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	730							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GGAAAGACTTCAGGAAGAGGA	0.383000			T	NUP98	AML*								19	38					0	0	0.00188189	0	0
TPP2	7174	broad.mit.edu	37	13	103301765	103301765	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:103301765A>G	ENST00000376052.3	+	23	2897	c.2881A>G	c.(2881-2883)Aaa>Gaa	p.K961E	TPP2_ENST00000376065.4_Missense_Mutation_p.K961E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	961					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGAATACCTAAAGGGGCAGG	0.348000													15	33					0	0	0.000422831	0	0
RBM12	10137	broad.mit.edu	37	20	34242629	34242629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:34242629G>A	ENST00000374114.3	-	3	879	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P206S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P206S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	206	Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAATTGGGGGAATGGATGGC	0.577000													19	78					0	0	0.00152264	0	0
SPEF2	79925	broad.mit.edu	37	5	35771755	35771755	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:35771755A>G	ENST00000440995.2	+	27	3831	c.3831A>G	c.(3829-3831)gaA>gaG	p.E1277E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.E1282E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1282					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAAAAAGAAAACCAGCCAG	0.398000													13	13					0	0	0.00244969	0	0
CATSPERD	257062	broad.mit.edu	37	19	5739416	5739416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:5739416G>A	ENST00000381624.3	+	7	600	c.539G>A	c.(538-540)gGa>gAa	p.G180E	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	180						integral to membrane											AATACTGGGGGATTCAGTTTT	0.303000													48	75					0	0	0.000781405	0	0
SLC35C2	51006	broad.mit.edu	37	20	44986401	44986401	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:44986401G>A	ENST00000372227.1	-	3	672	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC35C2_ENST00000243896.2_Silent_p.F44F|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Silent_p.F73F|SLC35C2_ENST00000317734.8_Silent_p.F44F|SLC35C2_ENST00000372230.5_Silent_p.F44F			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	44					transport	integral to membrane		p.F44F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TGAAGAGGGGGAAATGGAAGC	0.632000													46	15					0	0	0.000781405	0	0
VAV1	7409	broad.mit.edu	37	19	6821869	6821869	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6821869G>A	ENST00000304076.2	+	4	542	c.449_splice	c.e4+1	p.D150_splice	VAV1_ENST00000602142.1_Splice_Site_p.D150_splice|VAV1_ENST00000599806.1_Splice_Site_p.D95_splice|VAV1_ENST00000596764.1_Splice_Site_p.D150_splice|VAV1_ENST00000539284.1_Splice_Site_p.D85_splice	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	150					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGACCAGATCGAGTGAGTGCT	0.642000													28	46					0	0	0.00058488	0	0
FGF11	2256	broad.mit.edu	37	17	7345189	7345189	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:7345189C>T	ENST00000575331.1	+	2	2171	c.27C>T	c.(25-27)ctC>ctT	p.L9L	FGF11_ENST00000293829.4_Silent_p.L133L|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Silent_p.L9L|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575082.1_Silent_p.L9L|FGF11_ENST00000572907.1_Silent_p.L9L|FGF11_ENST00000575398.1_Silent_p.L9L			Q92914	FGF11_HUMAN	fibroblast growth factor 11	133					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				AGGGACTGCTCTACAGTTCGG	0.557000													12	8					0	0	0.00185496	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501624	140501624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140501624C>T	ENST00000194152.1	+	1	44	c.44C>T	c.(43-45)gCc>gTc	p.A15V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		15					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTGTTGGCCTTTATTTTG	0.498000													23	41					0	0	0.000878237	0	0
IKZF1	10320	broad.mit.edu	37	7	50468178	50468178	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:50468178C>T	ENST00000331340.3	+	8	1568	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	IKZF1_ENST00000346667.4_Silent_p.F241F|IKZF1_ENST00000357364.4_Silent_p.F384F|IKZF1_ENST00000439701.1_Silent_p.F429F|IKZF1_ENST00000349824.4_Silent_p.F328F|IKZF1_ENST00000359197.5_Silent_p.F429F|IKZF1_ENST00000438033.1_Silent_p.F384F|IKZF1_ENST00000343574.5_Silent_p.F384F|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGTGCTCTTCCTGGATCACG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	10					0	0	0.00198382	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576808	158576808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158576808C>T	ENST00000361284.1	+	1	580	c.580C>T	c.(580-582)Ccg>Tcg	p.P194S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGATACAGGCCCGAGTGAGCT	0.488000													15	36					0	0	0.00074312	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:108682428C>T	ENST00000232603.5	-	27	2714	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_ENST00000483760.1_Missense_Mutation_p.E857K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTTTTTCATATTGGACC	0.279000													10	30					0	0	0.00185496	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402415	47402415	+	Missense_Mutation	SNP	C	C	T	rs148717576		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:47402415C>T	ENST00000310638.4	-	4	462	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CYP4A11_ENST00000457840.2_Missense_Mutation_p.R40Q|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R144Q|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R144Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGTCAGCATCCGTCGATGCTG	0.527000													19	39					0	0	0.00229938	0	0
OR6K2	81448	broad.mit.edu	37	1	158669861	158669861	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158669861G>A	ENST00000359610.2	-	1	625	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATCATGACGATGGCTCGTG	0.468000													27	77					0	0	0.00058488	0	0
LLGL2	3993	broad.mit.edu	37	17	73567141	73567141	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73567141C>T	ENST00000392550.3	+	17	2253	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	LLGL2_ENST00000167462.5_Silent_p.F712F|LLGL2_ENST00000577200.1_Silent_p.F712F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	712					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCACAGGCTTCGTCCGGACCC	0.652000													48	132					0	0	0.000781405	0	0
KIAA1551	55196	broad.mit.edu	37	12	32133938	32133938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:32133938C>T	ENST00000312561.4	+	4	463	c.49C>T	c.(49-51)Cct>Tct	p.P17S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACCACTGTATCCTAAAAGCCA	0.378000													16	39					0	0	0.000422831	0	0
SORL1	6653	broad.mit.edu	37	11	121367676	121367676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:121367676C>T	ENST00000260197.7	+	6	986	c.857C>T	c.(856-858)tCc>tTc	p.S286F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	286					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTTCCAGTCCCGGGAAAAC	0.443000													23	31					0	0	0.000586117	0	0
CTR9	9646	broad.mit.edu	37	11	10772987	10772987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:10772987C>T	ENST00000361367.2	+	1	454	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	10					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGAGATTCCCCTCCGGGACAC	0.617000													9	18					0	0	0.000442599	0	0
TAF1	6872	broad.mit.edu	37	X	70683700	70683700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:70683700C>T	ENST00000449580.1	+	39	5576	c.5525C>T	c.(5524-5526)cCc>cTc	p.P1842L	TAF1_ENST00000423759.1_Missense_Mutation_p.P1831L|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000276072.3_Missense_Mutation_p.P1829L|TAF1_ENST00000373790.4_Missense_Mutation_p.P1808L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1808	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGCCTGATCCCAAGTCGAAC	0.532000													8	1					0	0	0.000442599	0	0
CACNA1E	777	broad.mit.edu	37	1	181725113	181725113	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181725113G>A	ENST00000526775.1	+	28	4119	c.3954G>A	c.(3952-3954)gaG>gaA	p.E1318E	CACNA1E_ENST00000367573.2_Silent_p.E1337E|CACNA1E_ENST00000360108.3_Silent_p.E1318E|CACNA1E_ENST00000357570.5_Silent_p.E1288E|CACNA1E_ENST00000358338.5_Silent_p.E1269E|CACNA1E_ENST00000367567.4_Silent_p.E944E|CACNA1E_ENST00000367570.1_Silent_p.E1337E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1337					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGATCATGAGAAAAACAAGA	0.488000													11	46					0	0	0.00185496	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570430	61570430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61570430G>A	ENST00000457692.1	+	9	1472	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	SERPINB2_ENST00000299502.4_Missense_Mutation_p.R380K	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	380		Reactive bond.			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGACAGGGAGAACTGGACAT	0.453000													19	29					0	0	0.00121646	0	0
MRPS6	64968	broad.mit.edu	37	21	35514810	35514810	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:35514810C>T	ENST00000399312.2	+	3	466	c.288C>T	c.(286-288)caC>caT	p.H96H	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	96					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TTGTCAAACACCCTCTGACCC	0.433000													120	217					0	0	0.000781405	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722804	58722804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:58722804C>T	ENST00000300079.5	+	6	612	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.H157Y	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	157						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGAGACAGGCCACCCAGATGA	0.398000													11	32					0	0	0.000978159	0	0
C4BPA	722	broad.mit.edu	37	1	207287488	207287488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:207287488G>A	ENST00000367070.3	+	3	380	c.186G>A	c.(184-186)atG>atA	p.M62I		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	62	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCCCCGATGGATATTACGT	0.473000													32	86					0	0	0.00058488	0	0
BTNL2	56244	broad.mit.edu	37	6	32364160	32364160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32364160G>A	ENST00000454136.3	-	5	738	c.734C>T	c.(733-735)tCt>tTt	p.S245F	BTNL2_ENST00000374995.3_Missense_Mutation_p.S151F|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000429232.2_Missense_Mutation_p.S152F|BTNL2_ENST00000540315.1_Missense_Mutation_p.S35F|BTNL2_ENST00000414363.1_Missense_Mutation_p.S35F|BTNL2_ENST00000374993.1_Missense_Mutation_p.S245F			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	245	Ig-like V-type 3.					integral to membrane		p.S245Y(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACTTTTAAAGAAGCTGTTAA	0.428000													6	17					0	0	0.000157383	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151303172C>T	ENST00000370323.4	-	4	1237	c.921G>A	c.(919-921)agG>agA	p.R307R	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.R307R	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000													57	8					0	0	0.000781405	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246220	145246220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:145246220C>T	ENST00000377976.1	-	2	407	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	136										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCTCTTGTCCATTGGGGTTC	0.418000													23	37					0	0	0.00278032	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482261	233482261	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:233482261G>A	ENST00000366624.3	+	2	1140	c.879G>A	c.(877-879)gcG>gcA	p.A293A	MLK4_ENST00000366623.3_Silent_p.A293A	NM_032435.2	NP_115811.2																					TTGGGTTGGCGAGGGAATGGC	0.428000													17	35					0	0	0.000958276	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453417	20453417	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:20453417G>A	ENST00000377252.3	+	7	1645	c.804G>A	c.(802-804)caG>caA	p.Q268Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.Q219Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	268						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGTCACACAGATAAGTTCAA	0.423000													10	20					0	0	0.000978159	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722503	16722503	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:16722503G>A	ENST00000417510.1	-	0	1227																											GGGAATCAAGGATTAGTGAGT	0.567000													10	4					0	0	0.000673444	0	0
GRIK3	2899	broad.mit.edu	37	1	37270649	37270649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:37270649G>A	ENST00000373091.3	-	15	2520	c.2504C>T	c.(2503-2505)tCt>tTt	p.S835F	GRIK3_ENST00000373093.4_Missense_Mutation_p.S835F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	835					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCAGCACAGAGAGGACCAG	0.592000													20	32					0	0	0.00121646	0	0
SULF1	23213	broad.mit.edu	37	8	70488375	70488375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:70488375C>T	ENST00000260128.4	+	6	1060	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SULF1_ENST00000458141.2_Missense_Mutation_p.P115S|SULF1_ENST00000402687.4_Missense_Mutation_p.P115S|SULF1_ENST00000419716.3_Missense_Mutation_p.P115S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	115					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTGCTCTTCCCCCTCGTGGCA	0.517000													25	33					0	0	0.00047179	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220379279	220379279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:220379279G>A	ENST00000358951.2	-	8	798	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	228					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAAGCACGAAGAGATTGAAAA	0.303000													14	36					0	0	0.00121646	0	0
USHBP1	83878	broad.mit.edu	37	19	17373400	17373400	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:17373400C>T	ENST00000252597.3	-	4	776	c.603G>A	c.(601-603)ctG>ctA	p.L201L	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.L137L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	201							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGATGGCCTCCAGGGAGGCCT	0.657000													15	36					0	0	0.000566183	0	0
RYR2	6262	broad.mit.edu	37	1	237982410	237982410	+	Silent	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:237982410A>T	ENST00000366574.2	+	101	14825	c.14508A>T	c.(14506-14508)ggA>ggT	p.G4836G	RYR2_ENST00000542537.1_Silent_p.G4820G|RYR2_ENST00000360064.6_Silent_p.G4842G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4836					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			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)			ACCCAGCAGGAGATGAATATG	0.413000													41	95					0	0	0.00148497	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70030043	70030043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:70030043G>A	ENST00000532298.1	-	1	48	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000325845.7_5'UTR																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						AGCGGGCCCTGGTCATGGGAC	0.542000													9	6					0	0	0.000442599	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134707	48134707	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:48134707A>G	ENST00000405493.2	-	20	2123	c.1914T>C	c.(1912-1914)agT>agC	p.S638S	RAPGEF3_ENST00000449771.2_Silent_p.S680S|RAPGEF3_ENST00000549151.1_Silent_p.S638S|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Silent_p.S589S|RAPGEF3_ENST00000389212.3_Silent_p.S680S|RAPGEF3_ENST00000171000.4_Silent_p.S638S	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	638					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTGGTGGATACTGTTGAAGA	0.682000													13	24					0	0	0.000566183	0	0
KRT36	8689	broad.mit.edu	37	17	39643315	39643315	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39643315G>A	ENST00000393986.2	-	7	1157	c.945C>T	c.(943-945)atC>atT	p.I315I	KRT36_ENST00000328119.6_Silent_p.I365I			O76013	KRT36_HUMAN	keratin 36	365	Coil 2.|Rod.		T -> M (in dbSNP:rs2301354).			intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTCGCAGCGGATCTCAGACA	0.647000													49	53					0	0	0.000781405	0	0
TMEM62	80021	broad.mit.edu	37	15	43476732	43476732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43476732C>T	ENST00000260403.2	+	14	2159	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	RP11-473C18.3_ENST00000565685.1_RNA|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	627						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ACACTGAACTCCACCAAGTTT	0.507000													39	66					0	0	0.00111076	0	0
FCN1	2219	broad.mit.edu	37	9	137801805	137801805	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:137801805A>G	ENST00000371806.3	-	9	911	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	274	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTCCTTGGAACTTCTCAGCA	0.478000													63	99					0	0	0.000781405	0	0
LRP8	7804	broad.mit.edu	37	1	53730059	53730059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53730059C>T	ENST00000306052.6	-	10	1538	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	LRP8_ENST00000465675.1_Missense_Mutation_p.M32I|LRP8_ENST00000354412.3_Missense_Mutation_p.M350I|LRP8_ENST00000347547.2_Missense_Mutation_p.M309I|LRP8_ENST00000371454.2_Missense_Mutation_p.M479I	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	479					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGGCCTTGTCCATGTAGGCGC	0.562000													5	6					0	0	0.00116845	0	0
ABCA6	23460	broad.mit.edu	37	17	67075144	67075144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:67075144C>T	ENST00000284425.2	-	39	4998	c.4824G>A	c.(4822-4824)tgG>tgA	p.W1608*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1608					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGAGGAGTTTCCATCTCATTG	0.308000													26	19					0	0	0.00127121	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883357	131883357	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:131883357C>T	ENST00000359827.3	-	13	3587	c.2625G>A	c.(2623-2625)aaG>aaA	p.K875K	PLXNA4_ENST00000321063.4_Silent_p.K875K			Q9HCM2	PLXA4_HUMAN	plexin A4	875	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATAGTGACCTTGGTGCCCC	0.547000													24	28					0	0	0.00178596	0	0
DYTN	391475	broad.mit.edu	37	2	207530603	207530603	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:207530603C>T	ENST00000452335.2	-	10	1247	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	377						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGTAGGTCCCGTCTTATCT	0.463000													9	30					0	0	0.000673444	0	0
FOLR4	390243	broad.mit.edu	37	11	94040783	94040783	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94040783C>T	ENST00000440961.2	+	4	701	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	226						extracellular region	folic acid binding|receptor activity	p.F220fs*>22(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCGCCTCTTCGCCAGCTCTG	0.602000													72	105					0	0	0.000781405	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	154998	154998	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:154998C>T	ENST00000283426.6	+	6	983	c.933C>T	c.(931-933)gtC>gtT	p.V311V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	311					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTGTGAGGTCGTGAGCTCCC	0.557000													23	37					0	0	0.000586117	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995338	10995338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:10995338C>T	ENST00000354666.3	-	5	490	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	136					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CGTTTTTTTCCGCAAAACGAA	0.378000													34	58					0	0	0.000814825	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482807	76482807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:76482807C>T	ENST00000307431.8	+	7	1268	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H271Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H295Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H299Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	296	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCATCATTTCCATGCACGGGG	0.423000													11	18					0	0	0.000673444	0	0
TAF6	6878	broad.mit.edu	37	7	99707825	99707825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:99707825C>T	ENST00000344095.4	-	11	1681	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	TAF6_ENST00000437822.2_Missense_Mutation_p.D423N|TAF6_ENST00000418432.2_Missense_Mutation_p.D310N|AP4M1_ENST00000421755.1_3'UTR|TAF6_ENST00000453269.2_Missense_Mutation_p.D386N|TAF6_ENST00000452041.1_Missense_Mutation_p.D386N|TAF6_ENST00000472509.1_Missense_Mutation_p.D443N	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	386					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTAACATCGTGTCCCAGC	0.572000													77	158					0	0	0.000781405	0	0
POLR1A	25885	broad.mit.edu	37	2	86272788	86272788	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:86272788C>T	ENST00000263857.6	-	20	3216	c.2838G>A	c.(2836-2838)agG>agA	p.R946R	POLR1A_ENST00000409681.1_Silent_p.R946R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	946					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCCACCAGCCCTGGGGGTGA	0.527000													48	51					0	0	0.000781405	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700579	7700579	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7700579G>A	ENST00000303635.7	+	7	837	c.630G>A	c.(628-630)acG>acA	p.T210T	CAMTA1_ENST00000439411.2_Silent_p.T210T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGAAATGGACGAAAGAAGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								30	29					0	0	0.00209593	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60991862	60991862	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:60991862C>T	ENST00000252998.1	-	5	423	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		AGCTCTCGAACTCCTGCTGCC	0.687000													8	3					0	0	0.000673444	0	0
FUT8	2530	broad.mit.edu	37	14	66082806	66082806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:66082806G>A	ENST00000360689.5	+	4	2041	c.314G>A	c.(313-315)aGa>aAa	p.R105K	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.R105K|FUT8_ENST00000394585.1_Missense_Mutation_p.R105K|FUT8_ENST00000557164.1_5'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	105					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAACAGACCAGAAATGGTAGG	0.398000													8	16					0	0	0.000157383	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426965	204426965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:204426965G>A	ENST00000367187.3	-	10	2160	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S535F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	535					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCCTTGACGGACTGGACCAC	0.632000													11	35					0	0	0.00185496	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716746	151716746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:151716746C>T	ENST00000392800.2	+	9	1446	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.R398*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	398						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTTTTTTCTTCGAAAGCCTGG	0.378000													34	48					0	0	0.00222228	0	0
DSCAM	1826	broad.mit.edu	37	21	42080528	42080528	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:42080528C>T	ENST00000400454.1	-	2	690	c.213G>A	c.(211-213)ggG>ggA	p.G71G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	71	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTGGCGGATCCCGGGGACAT	0.567000													21	31					0	0	0.00278032	0	0
LIMK1	3984	broad.mit.edu	37	7	73513457	73513457	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:73513457T>G	ENST00000418310.1	+	5	689	c.587T>G	c.(586-588)gTg>gGg	p.V196G	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.V132G|LIMK1_ENST00000336180.2_Missense_Mutation_p.V166G			P53667	LIMK1_HUMAN	LIM domain kinase 1	166	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GTCACCCTGGTGTCCATCCCA	0.647000													41	59					0	0	0.00285205	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779427	91779427	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:91779427C>T	ENST00000389857.6	-	15	2819	c.2733G>A	c.(2731-2733)agG>agA	p.R911R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	911					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTCACCTCCCTCAGAGTTG	0.572000													9	16					0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196825267	196825267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196825267C>T	ENST00000312428.6	-	18	2708	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	870	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						ACTGTGGAGTCATCTGATGGC	0.443000													22	44					0	0	0.00229938	0	0
HSPG2	3339	broad.mit.edu	37	1	22173080	22173080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:22173080G>A	ENST00000374695.3	-	63	8256	c.8177C>T	c.(8176-8178)tCc>tTc	p.S2726F	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2726	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GATGGGCATGGAGCTGCCAGG	0.597000													25	49					0	0	0.00127121	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:126173045G>A	ENST00000339582.2	-	9	3199	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_ENST00000358373.3_Silent_p.F797F|GRM8_ENST00000444921.2_Silent_p.F797F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	797					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)			15	22					0	0	0.000566183	0	0
PTPRN	5798	broad.mit.edu	37	2	220168482	220168482	+	Missense_Mutation	SNP	G	G	A	rs147728110		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:220168482G>A	ENST00000295718.2	-	4	592	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PTPRN_ENST00000409251.3_Missense_Mutation_p.P118S|PTPRN_ENST00000423636.2_Missense_Mutation_p.P28S|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	118					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCTCTGGGGGGCGAAGCCTG	0.542000													21	34					0	0	0.000586117	0	0
BIN2	51411	broad.mit.edu	37	12	51686091	51686091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:51686091G>A	ENST00000267012.4	-	10	860	c.799C>T	c.(799-801)Cga>Tga	p.R267*	BIN2_ENST00000452142.2_Nonsense_Mutation_p.R235*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.R240*|BIN2_ENST00000544402.1_Nonsense_Mutation_p.R241*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	267						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTAGCTGTTCGAACTGGGGGA	0.453000													41	52					0	0	0.000781405	0	0
WDR5	11091	broad.mit.edu	37	9	137007825	137007825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:137007825C>T	ENST00000358625.3	+	7	683	c.512C>T	c.(511-513)tCg>tTg	p.S171L	WDR5_ENST00000425041.1_Missense_Mutation_p.S171L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	171					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CCAGCTCACTCGGATCCAGTC	0.527000													46	60					0	0	0.000781405	0	0
NOC2L	26155	broad.mit.edu	37	1	883570	883570	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:883570G>A	ENST00000327044.6	-	14	1649	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	534						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGCTGTGCAGGTACTCCAGG	0.657000													4	9					0	0	0.00116845	0	0
OR2L8	391190	broad.mit.edu	37	1	248112855	248112855	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248112855G>A	ENST00000357191.3	+	1	696	c.696G>A	c.(694-696)ggG>ggA	p.G232G	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTGCAGAAGGGAGGAAGAAAG	0.448000													22	59					0	0	0.00278032	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:180348096C>T	ENST00000410066.1	-	6	1176	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_ENST00000409343.1_Silent_p.T115T|ZNF385B_ENST00000336917.5_Silent_p.T89T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000													15	34					0	0	0.000422831	0	0
RHBG	57127	broad.mit.edu	37	1	156351984	156351984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:156351984C>T	ENST00000537040.1	+	4	640	c.602C>T	c.(601-603)aCg>aTg	p.T201M	RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000368246.2_Silent_p.Y368Y|RHBG_ENST00000368249.1_Silent_p.Y368Y|RHBG_ENST00000451864.2_Silent_p.Y290Y|RHBG_ENST00000400992.2_Silent_p.Y336Y|RHBG_ENST00000255013.3_Silent_p.Y299Y			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATGAAGCTTACGGAGATGGGT	0.547000													37	105					0	0	0.00222228	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962555	73962555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:73962555C>T	ENST00000373468.1	-	3	2488	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E613K			Q5QGS0	K2022_HUMAN	KIAA2022	613					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTACCTGGTTCAAAGCTTTGC	0.453000													8	2					0	0	0.000157383	0	0
USP26	83844	broad.mit.edu	37	X	132160351	132160351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:132160351G>A	ENST00000511190.1	-	6	2367	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	USP26_ENST00000406273.1_Missense_Mutation_p.S633F|USP26_ENST00000370832.1_Missense_Mutation_p.S633F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	633					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTGGTTTAGAATTTTTTCC	0.398000													12	2					0	0	0.00185496	0	0
TLR4	7099	broad.mit.edu	37	9	120475571	120475571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:120475571G>A	ENST00000355622.6	+	3	1266	c.1165G>A	c.(1165-1167)Ggt>Agt	p.G389S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G349S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	389					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAGTTTCAAAGGTTGCTGTTC	0.393000													6	13					0	0	0.00116845	0	0
SNRPB2	6629	broad.mit.edu	37	20	16721490	16721490	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:16721490G>A	ENST00000246071.6	+	7	734		c.e7-1		SNRPB2_ENST00000377943.5_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						CTTCTTTATAGGTTCCCTGGC	0.388000													13	19					0	0	0.000308642	0	0
TDRD6	221400	broad.mit.edu	37	6	46659356	46659356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:46659356G>A	ENST00000544460.1	+	1	3745	c.3491G>A	c.(3490-3492)aGa>aAa	p.R1164K	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1164K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1164					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TACAAAGATAGAATAAGAAAA	0.303000													28	36					0	0	0.00209593	0	0
ADAM18	8749	broad.mit.edu	37	8	39587459	39587459	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39587459A>T	ENST00000265707.5	+	20	2265	c.2220A>T	c.(2218-2220)taA>taT	p.*740Y	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Nonstop_Mutation_p.*154Y|ADAM18_ENST00000379866.1_Nonstop_Mutation_p.*716Y	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	0					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGGGACATTAATATTGCACAG	0.328000													43	79					0	0	0.000781405	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654723	133654723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:133654723G>A	ENST00000310926.4	-	13	1982	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A494V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	570					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCATAGAGGGCTGGAGATGG	0.622000													4	8					0	0	0.00024832	0	0
OR8D2	283160	broad.mit.edu	37	11	124189444	124189444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124189444G>A	ENST00000357438.2	-	1	740	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAAAGCATAAGAGATAAGGAC	0.448000													12	18					0	0	0.00136819	0	0
TMPPE	643853	broad.mit.edu	37	3	33135664	33135664	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:33135664G>A	ENST00000342462.4	-	2	214	c.24C>T	c.(22-24)tcC>tcT	p.S8S	GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	8						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCGCGCCTAGGGACAGCTGCC	0.577000													29	54					0	0	0.00058488	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54684653	54684653	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:54684653C>T	ENST00000355221.3	-	9	1450	c.891G>A	c.(889-891)ctG>ctA	p.L297L	ATP6V1H_ENST00000359530.2_Silent_p.L315L|ATP6V1H_ENST00000396774.2_Silent_p.L315L|ATP6V1H_ENST00000520188.1_Silent_p.L275L	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	315					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCAACTGTTTCAGAACTTTGC	0.393000													22	30					0	0	0.00152264	0	0
IL12RB2	3595	broad.mit.edu	37	1	67838131	67838131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:67838131C>T	ENST00000262345.1	+	11	2112	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	IL12RB2_ENST00000544434.1_Intron|IL12RB2_ENST00000541374.1_Missense_Mutation_p.S491F|IL12RB2_ENST00000371000.1_Missense_Mutation_p.S491F	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	491	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AACATAAAATCCTACATCTGT	0.438000													22	47					0	0	0.00106085	0	0
IFNW1	3467	broad.mit.edu	37	9	21141139	21141139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:21141139C>T	ENST00000380229.2	-	1	1005	c.431G>A	c.(430-432)aGg>aAg	p.R144K		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	144					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAGTACCTCCTCAAGGTCAG	0.498000													14	27					0	0	0.00244969	0	0
SPIC	121599	broad.mit.edu	37	12	101880381	101880381	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:101880381C>T	ENST00000551346.1	+	6	738	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SPIC_ENST00000299272.5_Silent_p.F193F			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTTACCAGTTCAGTGAGGCCA	0.438000													38	77					0	0	0.00148497	0	0
GALNT11	63917	broad.mit.edu	37	7	151818699	151818699	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:151818699G>A	ENST00000434507.1	+	14	2201	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	GALNT11_ENST00000452146.2_Silent_p.K507K|GALNT11_ENST00000320311.2_Silent_p.K588K|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Silent_p.K588K			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	588	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGGTCAGAAGGGCTCTGTCG	0.517000													24	38					0	0	0.000720815	0	0
CCDC159	126075	broad.mit.edu	37	19	11462648	11462648	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:11462648C>T	ENST00000588790.1	+	8	936	c.490_splice	c.e8+1	p.L163_splice	CCDC159_ENST00000458408.1_Splice_Site_p.L163_splice			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	278										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATCAGAAGCTCCGTGAGTTCC	0.617000													7	9					0	0	0.00198382	0	0
OR4C16	219428	broad.mit.edu	37	11	55340152	55340152	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55340152G>A	ENST00000314634.3	+	1	549	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGCCCTTGTTGAAACAAGCCT	0.438000													24	45					0	0	0.00047179	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064056	79064056	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:79064056G>A	ENST00000388820.4	-	15	2457	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	749	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCCACCATTGAGGAAGTACT	0.642000													14	26					0	0	0.000308642	0	0
CNOT7	29883	broad.mit.edu	37	8	17102580	17102580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:17102580G>A	ENST00000361272.4	-	2	380	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.R28C	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	28					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R28C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ATAACTTGACGAATTTTCTTC	0.388000													38	20					0	0	0.00128727	0	0
SOX7	83595	broad.mit.edu	37	8	10583712	10583712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:10583712G>A	ENST00000304501.1	-	2	781	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	SOX7_ENST00000553390.1_Missense_Mutation_p.P287S|SOX7_ENST00000554914.1_Missense_Mutation_p.P287S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	235					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCAGGTGGGGGATGCGGCGG	0.692000													18	12					0	0	0.000720815	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457572	110457572	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:110457572A>T	ENST00000378402.5	+	38	5578	c.5474A>T	c.(5473-5475)aAc>aTc	p.N1825I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1825	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCTGGGAAACCTGACTGTC	0.483000										HNSCC(38;0.096)			19	27					0	0	0.00074312	0	0
KMT2B	9757	broad.mit.edu	37	19	36218863	36218863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36218863C>T	ENST00000222270.7	+	18	4474	c.4474C>T	c.(4474-4476)Cag>Tag	p.Q1492*	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Nonsense_Mutation_p.Q1492*	NM_014727.1	NP_055542.1																					GGCTGGAGGCCAGATGAAGGG	0.647000													7	1					0	0	0.00198382	0	0
GRIP1	23426	broad.mit.edu	37	12	66838422	66838422	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:66838422G>A	ENST00000359742.4	-	13	1869	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	GRIP1_ENST00000398016.3_Silent_p.L491L|GRIP1_ENST00000286445.7_Silent_p.L543L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	543	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGTCTCGGAGGAGCTGACTGG	0.458000													43	51					0	0	0.000781405	0	0
MEFV	4210	broad.mit.edu	37	16	3294267	3294267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:3294267C>T	ENST00000219596.1	-	8	1785	c.1746G>A	c.(1744-1746)atG>atA	p.M582I	MEFV_ENST00000339854.4_Missense_Mutation_p.M402I|MEFV_ENST00000541159.1_Missense_Mutation_p.M371I|MEFV_ENST00000536379.1_Missense_Mutation_p.M371I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	582	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGAACATTTCCATTTCTGAAC	0.517000													17	24					0	0	0.00188189	0	0
THSD1	55901	broad.mit.edu	37	13	52952920	52952920	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:52952920G>A	ENST00000349258.4	-	4	1570	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	THSD1_ENST00000258613.4_Silent_p.F395F|THSD1_ENST00000544466.1_Silent_p.F16F	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	395	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGGATGGCTGGAAAGCTGcaa	0.368000													12	18					0	0	0.000978159	0	0
SCN9A	6335	broad.mit.edu	37	2	167060676	167060676	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:167060676G>A	ENST00000303354.6	-	26	4906	c.4566C>T	c.(4564-4566)atC>atT	p.I1522I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.I1521I|SCN9A_ENST00000409672.1_Silent_p.I1510I|SCN9A_ENST00000375387.4_Silent_p.I1522I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1521						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGAACCATGATACTAATAT	0.323000													27	44					0	0	0.000720815	0	0
SPRR3	6707	broad.mit.edu	37	1	152975906	152975906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152975906G>A	ENST00000331860.3	+	3	560	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SPRR3_ENST00000295367.4_Missense_Mutation_p.G137E|SPRR3_ENST00000542696.1_Missense_Mutation_p.G129E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	137	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGAGCAAGGATACACCAAA	0.537000													11	14					0	0	0.000673444	0	0
ENG	2022	broad.mit.edu	37	9	130588123	130588123	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:130588123G>A	ENST00000344849.3	-	5	820	c.540C>T	c.(538-540)tcC>tcT	p.S180S	ENG_ENST00000373203.4_Silent_p.S180S			P17813	EGLN_HUMAN	endoglin	180					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCATGCAGAAGGACAGTGACC	0.667000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				3	3					0	0	0.000602214	0	0
SNORA71D	677840	broad.mit.edu	37	20	37062539	37062539	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:37062539G>A	ENST00000363484.1	-	0	102					NR_003018.2																						GAAAGGGACAGGAGCGGACCC	0.517000													71	30					0	0	0.000781405	0	0
MACF1	23499	broad.mit.edu	37	1	39934333	39934333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:39934333C>T	ENST00000564288.1	+	96	22595	c.21818C>T	c.(21817-21819)aCc>aTc	p.T7273I	MACF1_ENST00000372915.3_Missense_Mutation_p.T7166I|MACF1_ENST00000567887.1_Missense_Mutation_p.T7310I|MACF1_ENST00000317713.7_Missense_Mutation_p.T5208I|MACF1_ENST00000545844.1_Missense_Mutation_p.T5208I|MACF1_ENST00000539005.1_Missense_Mutation_p.T5078I|MACF1_ENST00000361689.2_Missense_Mutation_p.T5208I|MACF1_ENST00000289893.4_Missense_Mutation_p.T5716I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7166	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCGCAGCACCGTGATGGTT	0.433000													21	36					0	0	0.00188189	0	0
GPR124	25960	broad.mit.edu	37	8	37693275	37693275	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:37693275C>T	ENST00000412232.2	+	13	2050	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	679					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCCGTCATCTTCGCAGGAA	0.657000													8	5					0	0	0.000274275	0	0
OR4C6	219432	broad.mit.edu	37	11	55433041	55433041	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55433041C>T	ENST00000314259.3	+	1	428	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	133			I -> T (in dbSNP:rs11230600).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACACGATCATCATGAGTCCAC	0.512000													7	7					0	0	0.000157383	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263129	232263129	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:232263129C>T	ENST00000287590.5	+	2	960	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	233			V -> I (in dbSNP:rs2290130).		protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCCCCCACGTCCCCTTCATTT	0.562000													42	78					0	0	0.000781405	0	0
DSG4	147409	broad.mit.edu	37	18	28980906	28980906	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:28980906A>G	ENST00000359747.4	+	10	1369	c.1340A>G	c.(1339-1341)cAa>cGa	p.Q447R	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.Q447R	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	447	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGAGATACAATTTTCTAGA	0.299000													36	51					0	0	0.00128727	0	0
NLRP3	114548	broad.mit.edu	37	1	247607377	247607377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247607377G>A	ENST00000366497.2	+	7	3382	c.2602G>A	c.(2602-2604)Gga>Aga	p.G868R	NLRP3_ENST00000336119.3_Missense_Mutation_p.G925R|NLRP3_ENST00000348069.2_Missense_Mutation_p.G811R|NLRP3_ENST00000391827.2_Missense_Mutation_p.G868R|NLRP3_ENST00000391828.3_Missense_Mutation_p.G925R|NLRP3_ENST00000366496.2_Missense_Mutation_p.G868R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	925					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G925*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAACACTCTCGGAGACAAGGG	0.493000													24	55					0	0	0.00106085	0	0
C1orf216	127703	broad.mit.edu	37	1	36181741	36181741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:36181741G>A	ENST00000270815.4	-	2	952	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	61										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGACTCAGAGGAGCTCCTCCT	0.602000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	32					0	0	0.000953801	0	0
MUC16	94025	broad.mit.edu	37	19	9084257	9084257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9084257G>A	ENST00000397910.4	-	1	7761	c.7558C>T	c.(7558-7560)Ctc>Ttc	p.L2520F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2520	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTCTTGAGAAAGCCCATG	0.507000													13	13					0	0	0.00244969	0	0
CSMD2	114784	broad.mit.edu	37	1	34080129	34080129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:34080129C>T	ENST00000373381.4	-	40	6284	c.6108G>A	c.(6106-6108)tgG>tgA	p.W2036*	CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1996	CUB 12.					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)				GTGCTATTTTCCAGGAGCAGT	0.567000													7	10					0	0	0.000274275	0	0
TCF4	6925	broad.mit.edu	37	18	52895576	52895576	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:52895576C>T	ENST00000354452.3	-	19	2507	c.1896G>A	c.(1894-1896)ccG>ccA	p.P632P	TCF4_ENST00000544241.2_Silent_p.P561P|TCF4_ENST00000561831.3_Silent_p.P468P|TCF4_ENST00000537578.1_Silent_p.P608P|TCF4_ENST00000567880.1_Silent_p.P568P|TCF4_ENST00000457482.3_Silent_p.P472P|TCF4_ENST00000537856.3_Silent_p.P498P|TCF4_ENST00000561992.1_Silent_p.P498P|TCF4_ENST00000564403.2_Silent_p.P638P|TCF4_ENST00000570287.2_Silent_p.P468P|TCF4_ENST00000568740.1_Silent_p.P603P|TCF4_ENST00000565018.2_Silent_p.P632P|TCF4_ENST00000540999.1_Silent_p.P604P|TCF4_ENST00000568673.1_Silent_p.P608P|TCF4_ENST00000398339.1_Silent_p.P734P|TCF4_ENST00000566286.1_Silent_p.P625P|TCF4_ENST00000356073.4_Silent_p.P628P|TCF4_ENST00000566279.1_Silent_p.P572P|TCF4_ENST00000564999.1_Silent_p.P628P|TCF4_ENST00000564228.1_Silent_p.P557P|TCF4_ENST00000543082.1_Silent_p.P586P|TCF4_ENST00000570177.2_Silent_p.P498P	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	628	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACGCAGCTTTCGGATTCAGAT	0.532000													52	73					0	0	0.000781405	0	0
MGAT3	4248	broad.mit.edu	37	22	39884365	39884365	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:39884365A>C	ENST00000341184.6	+	2	1228	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	338					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCTGGACCGAGCCCTTCGCC	0.632000													52	61					0	0	0.000781405	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713730	70713730	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:70713730C>T	ENST00000530196.1	-	0	788					NR_003951.1																						AATCATGGTTCACCACAACAA	0.423000													28	64					0	0	0.00209593	0	0
PRKRA	8575	broad.mit.edu	37	2	179296897	179296897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179296897G>A	ENST00000325748.4	-	8	1069	c.869C>T	c.(868-870)tCc>tTc	p.S290F	AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.S279F|PRKRA_ENST00000487082.1_Missense_Mutation_p.S265F|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.S177F|AC009948.5_ENST00000415236.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	290	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTGCCACAGGAGATACCGGA	0.418000													31	61					0	0	0.00058488	0	0
MANSC1	54682	broad.mit.edu	37	12	12496028	12496028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:12496028G>A	ENST00000535902.1	-	2	784	c.221C>T	c.(220-222)tCa>tTa	p.S74L	MANSC1_ENST00000396349.3_Missense_Mutation_p.S40L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	74	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTATTTACCTGATATGTTTTT	0.408000													24	56					0	0	0.00047179	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452744	102452744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:102452744C>T	ENST00000360184.4	+	8	2346	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	728	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTTCGGGGCCGAACTGGAAA	0.517000													20	27					0	0	0.00188189	0	0
CAMK4	814	broad.mit.edu	37	5	110782473	110782473	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:110782473C>T	ENST00000282356.4	+	6	947	c.550_splice	c.e6+1	p.I183_splice	CAMK4_ENST00000512453.1_Splice_Site_p.I183_splice	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	183	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CACTCAAAATCGGTGAGAACA	0.383000													22	34					0	0	0.00047179	0	0
STON2	85439	broad.mit.edu	37	14	81743422	81743422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:81743422C>T	ENST00000555447.1	-	6	2645	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	STON2_ENST00000267540.2_Missense_Mutation_p.E745K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	745	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGACACTTTCCCTGCGGAAG	0.532000													32	56					0	0	0.00283554	0	0
FSHR	2492	broad.mit.edu	37	2	49210076	49210076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:49210076G>A	ENST00000406846.2	-	8	762	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.H215Y|FSHR_ENST00000304421.4_Missense_Mutation_p.H189Y|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	215					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGGCTCCGTGGAAAACATCA	0.418000									Gonadal Dysgenesis, 46 XX				12	18					0	0	0.00136819	0	0
EMB	133418	broad.mit.edu	37	5	49699072	49699072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:49699072G>A	ENST00000303221.5	-	6	1032	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	EMB_ENST00000514111.1_Missense_Mutation_p.L223F|EMB_ENST00000508934.1_Missense_Mutation_p.L219F	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	273						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCCACTAAAAGAATCACCTCA	0.383000													12	13					0	0	0.000422831	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517164	158517164	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158517164G>A	ENST00000302617.3	-	1	731	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGCACAGGTGGAGAATGCCT	0.502000													19	38					0	0	0.00278032	0	0
ASMTL	8623	broad.mit.edu	37	X	1540610	1540610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:1540610G>A	ENST00000534940.1	-	9	1237	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ASMTL_ENST00000381333.4_Nonsense_Mutation_p.R380*|ASMTL_ENST00000381317.3_Nonsense_Mutation_p.R396*|ASMTL_ENST00000416733.2_Nonsense_Mutation_p.R320*	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	396	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTCCCTCTCGGATGGCAAAC	0.542000													68	115					0	0	0.000781405	0	0
KRT31	3881	broad.mit.edu	37	17	39553173	39553173	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39553173G>A	ENST00000251645.2	-	2	475	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	141	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTTGGTTCTGAAATCATCCG	0.458000													37	100					0	0	0.00195071	0	0
LRP1	4035	broad.mit.edu	37	12	57600503	57600503	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:57600503C>T	ENST00000243077.3	+	76	12304	c.11838C>T	c.(11836-11838)gaC>gaT	p.D3946D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3946					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACAGATTGACCGGGGTGTCA	0.607000													10	25					0	0	0.000673444	0	0
LIN9	286826	broad.mit.edu	37	1	226421046	226421046	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:226421046T>C	ENST00000328205.5	-	13	2017	c.1473_splice	c.e13+1	p.K491_splice	LIN9_ENST00000366801.1_Splice_Site_p.K440_splice|LIN9_ENST00000481685.1_Splice_Site_p.K456_splice	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	475					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAGATTTACCTTAATTTGTAA	0.323000													89	82					0	0	0.000781405	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223315	118223315	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:118223315G>A	ENST00000402510.2	-	11	1877	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	626										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGGATCCGAAATCTATGC	0.468000													19	5					0	0	0.00229938	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:166891849G>A	ENST00000271417.3	-	8	1247	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	ILDR2_ENST00000526687.1_Nonsense_Mutation_p.R290*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.R271*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.R379*|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Nonsense_Mutation_p.R339*|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.R398*	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	398						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGCTCTCTCGATCCTCTTTG	0.597000													79	248					0	0	0.000781405	0	0
USP19	10869	broad.mit.edu	37	3	49154907	49154907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:49154907G>A	ENST00000453664.1	-	5	887	c.569C>T	c.(568-570)cCc>cTc	p.P190L	USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.P128L|USP19_ENST00000434032.2_Missense_Mutation_p.P190L|USP19_ENST00000417901.1_Missense_Mutation_p.P190L|USP19_ENST00000398888.2_Missense_Mutation_p.P190L|USP19_ENST00000398892.3_Missense_Mutation_p.P128L|USP19_ENST00000488993.1_5'UTR	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	190	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTTTTTGGGCAGTGTCAG	0.552000													20	33					0	0	0.00229938	0	0
ZNF275	10838	broad.mit.edu	37	X	152612510	152612510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:152612510C>T	ENST00000421401.3	+	4	544	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	ZNF275_ENST00000370249.2_Missense_Mutation_p.H70Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.H153Y|ZNF275_ENST00000370251.2_Missense_Mutation_p.H123Y	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	123						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAGAGTCCACAGTGAGGA	0.547000													10	2					0	0	0.000978159	0	0
CCR1	1230	broad.mit.edu	37	3	46245543	46245543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46245543G>A	ENST00000296140.3	-	2	387	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	88					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCCAGAAGGGAAGCGTGAAC	0.478000													51	46					0	0	0.000781405	0	0
CCDC84	338657	broad.mit.edu	37	11	118881945	118881945	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118881945C>T	ENST00000334418.1	+	5	521	c.465C>T	c.(463-465)atC>atT	p.I155I	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	155										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CAGCTCAGATCCGTGAGGTGG	0.562000													8	30					0	0	0.000442599	0	0
WNT3A	89780	broad.mit.edu	37	1	228246896	228246896	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228246896C>T	ENST00000284523.1	+	4	867	c.789C>T	c.(787-789)ttC>ttT	p.F263F	WNT3A_ENST00000366753.2_Silent_p.F263F	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	263					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACACCTACTTCAAGGTGCCCA	0.667000													7	27					0	0	0.00198382	0	0
OR13F1	138805	broad.mit.edu	37	9	107267348	107267348	+	Missense_Mutation	SNP	G	G	A	rs140352060		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:107267348G>A	ENST00000334726.2	+	1	894	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATTCACAGGAAATAGACAA	0.468000													15	34					0	0	0.000308642	0	0
NXF4	55999	broad.mit.edu	37	X	101805040	101805040	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:101805040G>A	ENST00000360035.2	+	0	148					NR_002216.1															endometrium(2)|lung(8)	10						GGTTAAGGGGGATCCTGAGCA	0.537000													31	4					0	0	0.000953801	0	0
ACOT8	10005	broad.mit.edu	37	20	44485898	44485898	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:44485898G>A	ENST00000217455.4	-	1	147	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTCCCCAGGGGGATCGCCGC	0.672000													27	18					0	0	0.000878237	0	0
RAG1	5896	broad.mit.edu	37	11	36595095	36595095	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:36595095T>G	ENST00000299440.5	+	2	353	c.241T>G	c.(241-243)Tta>Gta	p.L81V		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	81	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCAGCCATTGTTAAAAGCCCA	0.493000									Familial Hemophagocytic Lymphohistiocytosis				46	65					0	0	0.000781405	0	0
GALNT16	57452	broad.mit.edu	37	14	69787427	69787427	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:69787427G>A	ENST00000337827.4	+	2	504		c.e2-1		GALNT16_ENST00000448469.3_Splice_Site|GALNT16_ENST00000553669.1_Splice_Site	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CTTCATCTCAGGTGACAGGAA	0.607000													47	63					0	0	0.000781405	0	0
EAPP	55837	broad.mit.edu	37	14	35005439	35005439	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:35005439G>A	ENST00000250454.3	-	2	198	c.117C>T	c.(115-117)gaC>gaT	p.D39D		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	39					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTCGTTTTTGGTCAGGAGTTC	0.308000													27	35					0	0	0.0024448	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917791	89917791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:89917791C>T	ENST00000548729.1	-	3	829	c.527G>A	c.(526-528)aGa>aAa	p.R176K	POC1B-GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.R179K	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					CAAATAAACTCTGTCACTCAA	0.443000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	43					0	0	0.001512	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008341	27008341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:27008341C>T	ENST00000314616.6	+	12	1700	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R473*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	473					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTATTATGGCCGAGACATCCC	0.448000													44	41					0	0	0.0025221	0	0
MYOM3	127294	broad.mit.edu	37	1	24383876	24383876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:24383876G>A	ENST00000330966.7	-	37	4463	c.4301C>T	c.(4300-4302)cCc>cTc	p.P1434L	MYOM3_ENST00000374434.3_Missense_Mutation_p.P1431L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P324L			Q5VTT5	MYOM3_HUMAN	myomesin 3	1431										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGCTCCTTGGGCTCGTCCCC	0.577000													19	22					0	0	0.00121646	0	0
GABRB3	2562	broad.mit.edu	37	15	26793167	26793167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:26793167C>T	ENST00000541819.2	-	10	1465	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	GABRB3_ENST00000545868.1_Missense_Mutation_p.G314R|GABRB3_ENST00000400188.3_Missense_Mutation_p.G328R|GABRB3_ENST00000311550.5_Missense_Mutation_p.G399R|GABRB3_ENST00000299267.4_Missense_Mutation_p.G399R			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G399*(2)|p.G455*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TACTGGATTCCTGAGTTGTCA	0.502000													27	50					0	0	0.000720815	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604048	54604048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:54604048G>A	ENST00000474759.1	+	8	853	c.805G>A	c.(805-807)Gga>Aga	p.G269R	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G269R|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G175R|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G269R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	269	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGCATGAAAGGACTCCGTCT	0.433000													40	68					0	0	0.00128727	0	0
SYT10	341359	broad.mit.edu	37	12	33535372	33535372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33535372G>A	ENST00000228567.3	-	5	1578	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	SYT10_ENST00000535526.1_Missense_Mutation_p.P247S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	428	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGTACACAGGGTTTAGAGTG	0.408000													25	31					0	0	0.000586117	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													17	27					0	0	0.000422831	0	0
TNIP1	10318	broad.mit.edu	37	5	150413312	150413312	+	Missense_Mutation	SNP	C	C	G	rs144751861		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:150413312C>G	ENST00000389378.2	-	16	2224	c.1636G>C	c.(1636-1638)Ggg>Cgg	p.G546R	TNIP1_ENST00000520931.1_Missense_Mutation_p.G493R|TNIP1_ENST00000523200.1_Intron|TNIP1_ENST00000315050.7_Missense_Mutation_p.G546R|TNIP1_ENST00000523338.1_Missense_Mutation_p.G546R|TNIP1_ENST00000518977.1_Missense_Mutation_p.G546R|TNIP1_ENST00000521591.1_Missense_Mutation_p.G546R|TNIP1_ENST00000522226.1_Missense_Mutation_p.G546R|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000521423.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	546	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTAGGCCCCGCAGAGATGT	0.632000													5	70					0	0	0.000602214	0	0
IL12A	3592	broad.mit.edu	37	3	159708099	159708099	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:159708099G>A	ENST00000305579.2	+	2	571	c.264_splice	c.e2+1	p.K88_splice	IL12A_ENST00000480787.1_Splice_Site_p.K88_splice|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Splice_Site_p.K88_splice	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	54					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTCCAGAAGGTGAGCCTTT	0.587000													20	21					0	0	0.00047179	0	0
ALPK2	115701	broad.mit.edu	37	18	56203320	56203320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:56203320C>T	ENST00000361673.3	-	5	4312	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1367							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTAACATTTTCCTTCCCTCCA	0.453000													38	50					0	0	0.0025221	0	0
SETBP1	26040	broad.mit.edu	37	18	42532080	42532080	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:42532080C>A	ENST00000282030.5	+	4	3071	c.2775C>A	c.(2773-2775)gaC>gaA	p.D925E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	925						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCATTGTGGACAACTTTCTGG	0.542000									Schinzel-Giedion syndrome				20	35					3.62473e-10	1.38035e-09	0.00188189	1	0
COL4A5	1287	broad.mit.edu	37	X	107935983	107935983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:107935983G>A	ENST00000328300.6	+	50	4778	c.4534G>A	c.(4534-4536)Gct>Act	p.A1512T	COL4A5_ENST00000361603.2_Missense_Mutation_p.A1506T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1506	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTAGGGACGGCTGGCAGCTG	0.398000									Alport syndrome with Diffuse Leiomyomatosis				25	8					0	0	0.00283554	0	0
IQCJ	654502	broad.mit.edu	37	3	158983150	158983150	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:158983150G>A	ENST00000482126.1	+	4	462	c.357G>A	c.(355-357)aaG>aaA	p.K119K	IQCJ_ENST00000451172.1_Silent_p.K146K|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ATACTCTCAAGGAGCCCCAGA	0.507000													20	22					0	0	0.00229938	0	0
TPP2	7174	broad.mit.edu	37	13	103301256	103301256	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:103301256G>A	ENST00000376052.3	+	22	2644		c.e22-1		TPP2_ENST00000376065.4_Splice_Site			P29144	TPP2_HUMAN	tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCTTTTTCAGTATTCTTTGA	0.353000													8	10					0	0	0.000274275	0	0
SYT15	83849	broad.mit.edu	37	10	46967612	46967612	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:46967612C>T	ENST00000374323.3	-	3	1211	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SYT15_ENST00000374325.3_Silent_p.V155V|SYT15_ENST00000374321.4_Silent_p.V155V|SYT15_ENST00000503753.1_Silent_p.V155V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	155	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCATATTCCACCGAGAACC	0.627000													11	43					0	0	0.000673444	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176162	140176162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140176162G>A	ENST00000526136.1	+	1	1613	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R538Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R538Q|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGGGATGCGGGC	0.677000													37	51					0	0	0.000781405	0	0
COG8	84342	broad.mit.edu	37	16	69364886	69364886	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:69364886C>T	ENST00000306875.4	-	5	1809	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	565					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCTGGTCATCCAGGGTGAAAA	0.657000													4	6					0	0	0.00024832	0	0
NFATC3	4775	broad.mit.edu	37	16	68225340	68225340	+	Missense_Mutation	SNP	C	C	T	rs3199162		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:68225340C>T	ENST00000349223.5	+	9	2992	c.2768C>T	c.(2767-2769)gCt>gTt	p.A923V	NFATC3_ENST00000346183.3_Missense_Mutation_p.A923V|NFATC3_ENST00000329524.4_Missense_Mutation_p.A923V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.A923V	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	923				A -> V (in Ref. 3; AAB46595/AAB46596/ AAB46597).	inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGGGTCTGCTACAACAGCT	0.502000													34	38					0	0	0.0024448	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280593	105280593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:105280593G>A	ENST00000327674.4	-	1	792	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L153F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	153					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTCATAGAGGGTCTTGACA	0.428000													35	8					0	0	0.000953801	0	0
ALX3	257	broad.mit.edu	37	1	110604186	110604186	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:110604186C>T	ENST00000369792.4	-	3	682		c.e3-1		RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGAACCAGACCTGGGGGCAGG	0.612000													10	33					0	0	0.000673444	0	0
CD300A	11314	broad.mit.edu	37	17	72469840	72469840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:72469840G>A	ENST00000360141.3	+	2	494	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	69	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGGTCAGCAGGAAAAAGGAAC	0.517000													42	35					0	0	0.00285205	0	0
MCC	4163	broad.mit.edu	37	5	112720758	112720758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:112720758C>T	ENST00000408903.3	-	2	737	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATCTACTTCCTCCTTCCTA	0.453000													33	62					0	0	0.00111076	0	0
SEC24D	9871	broad.mit.edu	37	4	119727032	119727032	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:119727032G>T	ENST00000379735.5	-	7	1153	c.882C>A	c.(880-882)ccC>ccA	p.P294P	SEC24D_ENST00000280551.6_Silent_p.P293P|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	293					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGTGACCAGGGGAGGGATCT	0.393000													6	84					0.00198382	0.0074215	0.00198382	1	0
FASN	2194	broad.mit.edu	37	17	80040272	80040272	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:80040272G>A	ENST00000306749.2	-	35	6156	c.5938C>T	c.(5938-5940)Ctg>Ttg	p.L1980L	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1980	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGTTCTCCAGCAAGCCATCT	0.647000													11	24					0	0	0.00136819	0	0
NACC2	138151	broad.mit.edu	37	9	138905067	138905067	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:138905067G>A	ENST00000371753.1	-	4	1291	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	NACC2_ENST00000277554.2_Silent_p.S411S			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	411	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						TCAGGACCCGGCTGTCCAGCG	0.682000													27	66					0	0	0.0024448	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722502	16722502	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:16722502G>A	ENST00000417510.1	-	0	1228																											AGGGAATCAAGGATTAGTGAG	0.572000													10	4					0	0	0.000673444	0	0
WNK2	65268	broad.mit.edu	37	9	96024118	96024118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:96024118C>T	ENST00000297954.4	+	12	3089	c.3089C>T	c.(3088-3090)cCc>cTc	p.P1030L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P642L|WNK2_ENST00000395477.2_Missense_Mutation_p.P1030L|WNK2_ENST00000349097.3_Missense_Mutation_p.P642L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1030					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACCCAGCTCCCTATGCTGTG	0.701000													31	39					0	0	0.00128727	0	0
PADI4	23569	broad.mit.edu	37	1	17690064	17690064	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:17690064C>T	ENST00000375448.4	+	16	1832	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	602					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAAGCCCTTCGGGCCCGTCA	0.632000													7	11					0	0	0.000274275	0	0
CA13	377677	broad.mit.edu	37	8	86163020	86163020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:86163020C>T	ENST00000321764.3	+	2	391	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	30					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GATCAGCAATCTCCAATTGAG	0.368000													35	72					0	0	0.000953801	0	0
CPT2	1376	broad.mit.edu	37	1	53676142	53676142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53676142C>T	ENST00000371486.3	+	4	1311	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	266					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CATTGTGAGCCCCTCGGAAAT	0.502000													19	38					0	0	0.00121646	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665783	37665783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:37665783G>A	ENST00000399151.3	+	37	6896	c.6811G>A	c.(6811-6813)Gac>Aac	p.D2271N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2271					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCATTCTTGGACTTTCCTGT	0.438000													25	59					0	0	0.00106085	0	0
ATP2B2	491	broad.mit.edu	37	3	10370590	10370590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:10370590C>T	ENST00000397077.1	-	22	4080	c.3505G>A	c.(3505-3507)Gac>Aac	p.D1169N	ATP2B2_ENST00000360273.2_Missense_Mutation_p.D1214N|ATP2B2_ENST00000383800.4_Missense_Mutation_p.D1169N|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000352432.4_Missense_Mutation_p.D1214N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.D1200N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1214					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.D1214N(1)|p.D1169N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATCCCACTGTCGATGGCGCTG	0.572000													23	51					0	0	0.000586117	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363800	4363800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:4363800C>T	ENST00000269886.3	-	6	719	c.541G>A	c.(541-543)Gag>Aag	p.E181K	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.E117K|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E133K	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	181	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGTAGCTCCTCATCGGGGATC	0.602000			T	MLL	AL								31	41					0	0	0.0024448	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064058	79064058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:79064058G>A	ENST00000388820.4	-	15	2455	c.2245C>T	c.(2245-2247)Ctc>Ttc	p.L749F	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	749	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCATTGAGGAAGTACTTC	0.642000													14	26					0	0	0.000308642	0	0
CLOCK	9575	broad.mit.edu	37	4	56304484	56304484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:56304484C>T	ENST00000309964.4	-	21	2576	c.2326G>A	c.(2326-2328)Gct>Act	p.A776T	CLOCK_ENST00000381322.1_Missense_Mutation_p.A776T|CLOCK_ENST00000513440.1_Missense_Mutation_p.A776T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	776					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTCAGCTGAGCCTGAGATGGT	0.473000													15	23					0	0	0.000566183	0	0
TLR3	7098	broad.mit.edu	37	4	187005261	187005261	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:187005261C>T	ENST00000296795.2	+	4	2525	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	TLR3_ENST00000504367.1_Silent_p.I530I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	807	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTAACAGCATCAAAAGAAGCA	0.333000													28	61					0	0	0.000878237	0	0
IL1R2	7850	broad.mit.edu	37	2	102644761	102644761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:102644761G>A	ENST00000332549.3	+	9	1333	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Nonsense_Mutation_p.W368*	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	368					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)	GGGGAATATGGATGCACAGAC	0.498000													30	34					0	0	0.0024448	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022446	51022446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51022446G>A	ENST00000599957.1	-	3	721	c.524C>T	c.(523-525)tCc>tTc	p.S175F	LRRC4B_ENST00000389201.3_Missense_Mutation_p.S175F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	175						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAAGGCGTAGGAGGGGATGCT	0.657000													24	28					0	0	0.000720815	0	0
SVIL	6840	broad.mit.edu	37	10	29815923	29815923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:29815923G>A	ENST00000375398.2	-	15	2758	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P770L			O95425	SVIL_HUMAN	supervillin	770					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCTACAGTGGGGCTAGGAAG	0.537000													14	28					0	0	0.000308642	0	0
FGD5	152273	broad.mit.edu	37	3	14861592	14861592	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:14861592C>T	ENST00000285046.5	+	1	1124	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	FGD5_ENST00000543601.1_Silent_p.F97F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	338					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGAGGACTTCGTGACTTCCC	0.537000													30	42					0	0	0.00283554	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033703	82033703	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:82033703C>T	ENST00000328945.5	-	3	322	c.195G>A	c.(193-195)gaG>gaA	p.E65E	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	65					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGAAGGCTTTCTCTACGTCAG	0.473000													42	89					0	0	0.00195071	0	0
HRH2	3274	broad.mit.edu	37	5	175110262	175110262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175110262C>T	ENST00000231683.2	+	1	1799	c.26C>T	c.(25-27)tCc>tTc	p.S9F	HRH2_ENST00000377291.2_Missense_Mutation_p.S9F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	9					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACAGCCTCTTCCTTTTGCCTG	0.572000													61	106					0	0	0.000781405	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391198	23391198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:23391198C>T	ENST00000258729.3	-	6	765	c.409G>A	c.(409-411)Gac>Aac	p.D137N	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	137	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTCAGTTTGTCTAGTGCTCTG	0.463000													15	36					0	0	0.000566183	0	0
MMADHC	27249	broad.mit.edu	37	2	150426675	150426675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:150426675C>T	ENST00000428879.1	-	7	1208	c.704G>A	c.(703-705)gGa>gAa	p.G235E	MMADHC_ENST00000303319.5_Missense_Mutation_p.G235E|MMADHC_ENST00000422782.2_Missense_Mutation_p.G269E			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	235						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TGTATATGGTCCAAAAAACTG	0.313000													6	13					0	0	0.00198382	0	0
GOLGA5	9950	broad.mit.edu	37	14	93290921	93290921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:93290921C>T	ENST00000163416.2	+	9	1907	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.R551*	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	551					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AGATCTTTATCGAACAAAGAA	0.368000			T	RET	papillary thyroid								32	47					0	0	0.00148497	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499546	27499546	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:27499546A>G	ENST00000356183.4	-	23	3716		c.e23+1		GTF3C1_ENST00000561623.1_Splice_Site	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa							transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCACCACATAACCTTTCTTCT	0.532000													39	75					0	0	0.00195071	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027492	9027492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:9027492G>A	ENST00000383836.3	-	22	3438	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P980L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1004					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGAGCTGACGGGGCCTGGCGG	0.667000			T	RAF1	pilocytic astrocytoma								26	34					0	0	0.000720815	0	0
RBMS1	5937	broad.mit.edu	37	2	161141366	161141366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:161141366G>A	ENST00000348849.3	-	9	1250	c.820C>T	c.(820-822)Cca>Tca	p.P274S	RBMS1_ENST00000409972.1_Missense_Mutation_p.P238S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P238S|RBMS1_ENST00000409289.2_Missense_Mutation_p.P238S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.P271S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	274					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ATACTGTATGGTGAAGGATAA	0.343000													14	31					0	0	0.00244969	0	0
MAGED1	9500	broad.mit.edu	37	X	51641714	51641714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:51641714C>T	ENST00000375695.2	+	11	2140	c.1987C>T	c.(1987-1989)Ctc>Ttc	p.L663F	MAGED1_ENST00000375772.3_Missense_Mutation_p.L607F|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.L607F|MAGED1_ENST00000326587.7_Missense_Mutation_p.L607F	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	607	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGGAAACTTCTCACCTATGA	0.453000										Multiple Myeloma(10;0.10)			13	3					0	0	0.000422831	0	0
ERG	2078	broad.mit.edu	37	21	39817365	39817365	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:39817365G>A	ENST00000442448.1	-	4	490	c.219C>T	c.(217-219)atC>atT	p.I73I	ERG_ENST00000398905.1_Silent_p.I66I|ERG_ENST00000429727.2_Silent_p.I66I|ERG_ENST00000398910.1_Silent_p.I73I|ERG_ENST00000398911.1_Silent_p.I73I|ERG_ENST00000417133.2_Silent_p.I73I|ERG_ENST00000288319.7_Silent_p.I66I|ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Silent_p.I73I|ERG_ENST00000453032.2_Intron|ERG_ENST00000398907.1_Silent_p.I66I	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	73					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTCCATTTTGATGGTGACCC	0.552000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								12	24					0	0	0.000566183	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664693	160664693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:160664693G>A	ENST00000366953.3	-	7	1448	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	397					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCGGTCGATGGTGAGGATGAT	0.522000													31	21					0	0	0.00178596	0	0
INTS4	92105	broad.mit.edu	37	11	77672163	77672163	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:77672163C>A	ENST00000534064.1	-	5	527	c.493G>T	c.(493-495)Ggt>Tgt	p.G165C	INTS4_ENST00000529807.1_Missense_Mutation_p.G165C	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	165					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTTACACCATGAGACGTA	0.348000													7	101					0.00198382	0.0074215	0.00198382	1	0
KIAA1462	57608	broad.mit.edu	37	10	30336558	30336558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:30336558C>T	ENST00000375377.1	-	2	285	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	62										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCTTTCCCCGCGGACGTC	0.677000													15	23					0	0	0.00244969	0	0
DNAH7	56171	broad.mit.edu	37	2	196659171	196659171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196659171C>T	ENST00000312428.6	-	57	10707	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E	DNAH7_ENST00000409063.1_Missense_Mutation_p.G19E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3536	AAA 6 (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						CATTTTCACTCCATTCTGCAG	0.458000													28	45					0	0	0.00127121	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969630	145969630	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:145969630G>A	ENST00000394413.3	-	9	1782	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Silent_p.I404I|PPP2R2B_ENST00000508545.2_Silent_p.I393I|PPP2R2B_ENST00000336640.6_Silent_p.I407I|PPP2R2B_ENST00000394411.4_Silent_p.I404I|PPP2R2B_ENST00000453001.1_Silent_p.I404I|PPP2R2B_ENST00000504198.1_Silent_p.I410I|PPP2R2B_ENST00000394410.2_Silent_p.I393I|PPP2R2B_ENST00000394409.3_Silent_p.I462I|PPP2R2B_ENST00000394414.1_Silent_p.I470I|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	404					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCGACACTGATCTCGTCTT	0.473000													56	67					0	0	0.000781405	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723500	7723500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7723500G>A	ENST00000303635.7	+	9	1100	c.893G>A	c.(892-894)gGg>gAg	p.G298E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G298E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGGGGTACGGGAGCCACTCG	0.642000			T	WWTR1	epitheliod hemangioendothelioma								34	38					0	0	0.00111076	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303157	151303157	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151303157C>T	ENST00000370323.4	-	4	1252	c.936G>A	c.(934-936)ctG>ctA	p.L312L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L312L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	312	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAATTTCAGGAGACTCA	0.502000													60	7					0	0	0.000781405	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76175716	76175716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:76175716C>T	ENST00000267938.4	+	9	1217	c.835C>T	c.(835-837)Cca>Tca	p.P279S	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.P279S|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.P263S|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.P244S	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	279					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GGATAACTTTCCATTTGATCC	0.269000													42	67					0	0	0.000680045	0	0
RBP4	5950	broad.mit.edu	37	10	95360193	95360193	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:95360193G>A	ENST00000371467.1	-	4	631	c.312C>T	c.(310-312)ttC>ttT	p.F104F	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Silent_p.F102F|RBP4_ENST00000371464.3_Silent_p.F104F			P02753	RET4_HUMAN	retinol binding protein 4, plasma	104					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	ACTTCATCTTGAACTTGGCAG	0.577000													27	59					0	0	0.00058488	0	0
ZNF41	7592	broad.mit.edu	37	X	47307898	47307898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:47307898G>A	ENST00000377065.4	-	5	1910	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	ZNF41_ENST00000313116.7_Missense_Mutation_p.S424L|ZNF41_ENST00000397050.2_Missense_Mutation_p.S434L	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCTGAGTGCTGATTTTCTTGT	0.448000													53	11					0	0	0.000781405	0	0
MYH11	4629	broad.mit.edu	37	16	15931849	15931849	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:15931849C>T	ENST00000338282.6	-	2	367	c.261G>A	c.(259-261)gtG>gtA	p.V87V	MYH11_ENST00000396324.3_Silent_p.V87V|MYH11_ENST00000300036.5_Silent_p.V87V|MYH11_ENST00000576790.1_Silent_p.V87V|MYH11_ENST00000452625.2_Silent_p.V87V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	87	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCATGTCCTCCACCTTGGAGA	0.542000			T	CBFB	AML								44	72					0	0	0.0025221	0	0
SORCS3	22986	broad.mit.edu	37	10	106974284	106974284	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106974284C>T	ENST00000369701.3	+	18	2687	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	SORCS3_ENST00000369699.4_Silent_p.A106A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	820						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGAAAAGCCCCTCGGGGCC	0.567000													12	27					0	0	0.000978159	0	0
DSP	1832	broad.mit.edu	37	6	7580074	7580074	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:7580074G>A	ENST00000379802.3	+	23	3992	c.3651G>A	c.(3649-3651)acG>acA	p.T1217T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1217	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAACATTACGAAGACCACCA	0.368000													21	33					0	0	0.00229938	0	0
CNTN4	152330	broad.mit.edu	37	3	2777901	2777901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:2777901G>A	ENST00000397461.1	+	4	442	c.58G>A	c.(58-60)Gat>Aat	p.D20N	CNTN4_ENST00000427331.1_Missense_Mutation_p.D20N|CNTN4_ENST00000418658.1_Missense_Mutation_p.D20N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	20					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CATTTCAGATGATTCCACACT	0.348000													73	112					0	0	0.000781405	0	0
KRT36	8689	broad.mit.edu	37	17	39644899	39644899	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39644899C>T	ENST00000393986.2	-	3	599	c.387G>A	c.(385-387)cgG>cgA	p.R129R	KRT36_ENST00000328119.6_Silent_p.R179R			O76013	KRT36_HUMAN	keratin 36	179	Linker 1.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTCACTTGGTCCGGAAGTCGT	0.562000													44	93					0	0	0.000781405	0	0
FAM131B	9715	broad.mit.edu	37	7	143054034	143054034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:143054034G>A	ENST00000409408.1	-	6	2316	c.608C>T	c.(607-609)gCc>gTc	p.A203V	FAM131B_ENST00000409222.3_Missense_Mutation_p.A203V|FAM131B_ENST00000443739.2_Missense_Mutation_p.A231V|FAM131B_ENST00000409578.1_Missense_Mutation_p.A219V|FAM131B_ENST00000409346.1_Missense_Mutation_p.A203V			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	203										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCTTCCCAGGCATCTGACGA	0.542000													13	25					0	0	0.00136819	0	0
FBXO47	494188	broad.mit.edu	37	17	37118296	37118296	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:37118296C>T	ENST00000378079.2	-	3	385	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	62	F-box.									NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGCTGATATCCTTCACTACCA	0.343000													24	88					0	0	0.000878237	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781085	135781085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:135781085C>T	ENST00000392915.1	-	1	134	c.15G>A	c.(13-15)tgG>tgA	p.W5*	MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron					mitogen-activated protein kinase kinase kinase 19																		CTTGAAAGTTCCAATGTGCTc	0.443000													8	21					0	0	0.000673444	0	0
ACSBG2	81616	broad.mit.edu	37	19	6151757	6151757	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6151757T>C	ENST00000588304.1	+	4	633	c.187T>C	c.(187-189)Ttt>Ctt	p.F63L	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.F113L|ACSBG2_ENST00000591403.1_Missense_Mutation_p.F113L|ACSBG2_ENST00000586696.1_Missense_Mutation_p.F113L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	113					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATCCTGGGGTTTAACTCTGC	0.478000													6	9					0	0	0.000157383	0	0
RYR2	6262	broad.mit.edu	37	1	237969530	237969530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:237969530G>A	ENST00000366574.2	+	99	14562	c.14245G>A	c.(14245-14247)Gga>Aga	p.G4749R	RYR2_ENST00000542537.1_Missense_Mutation_p.G4733R|RYR2_ENST00000360064.6_Missense_Mutation_p.G4755R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4749					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			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)			CATTGCTATGGGATTCAAGAC	0.383000													31	107					0	0	0.00058488	0	0
TMEM182	130827	broad.mit.edu	37	2	103431269	103431269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:103431269G>A	ENST00000412401.2	+	5	737	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	TMEM182_ENST00000409528.1_Missense_Mutation_p.E82K|TMEM182_ENST00000409173.1_Missense_Mutation_p.E135K|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	178						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGCTGACATGGAAAGCTACCG	0.463000													7	10					0	0	0.00198382	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944602	78944602	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:78944602G>A	ENST00000286627.5	-	4	1627	c.675C>T	c.(673-675)ttC>ttT	p.F225F	KCNMA1_ENST00000406533.3_Silent_p.F225F|KCNMA1_ENST00000404771.3_Silent_p.F225F|KCNMA1_ENST00000372440.1_Silent_p.F225F|KCNMA1_ENST00000372443.1_Silent_p.F225F|KCNMA1_ENST00000286628.8_Silent_p.F225F|KCNMA1_ENST00000354353.5_Silent_p.F225F|KCNMA1_ENST00000404857.1_Silent_p.F225F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	225					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTAGAGAAGGAAGAACACGT	0.453000													22	35					0	0	0.00047179	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234240	61234240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61234240C>T	ENST00000382768.1	+	7	1274	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.P405L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	405					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTCTGCTCTCCTTAAAAGGGG	0.413000													21	41					0	0	0.00188189	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028539	141028539	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:141028539C>T	ENST00000435817.2	-	7	611	c.561G>A	c.(559-561)caG>caA	p.Q187Q	FCHSD1_ENST00000522126.1_Silent_p.Q111Q|FCHSD1_ENST00000522783.1_Silent_p.Q185Q|FCHSD1_ENST00000519800.1_Silent_p.Q185Q	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	187									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAGTTTCTGGAGACTGG	0.532000													48	60					0	0	0.000781405	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:66678171G>A	ENST00000360242.5	+	7	1381	c.1263_splice	c.e7-1	p.E422_splice	CCDC102B_ENST00000584156.1_Splice_Site_p.E422_splice|CCDC102B_ENST00000319445.6_Splice_Site_p.E422_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000													10	10					0	0	0.000442599	0	0
EDAR	10913	broad.mit.edu	37	2	109545659	109545659	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:109545659G>A	ENST00000409271.1	-	5	794	c.351C>T	c.(349-351)ctC>ctT	p.L117L	EDAR_ENST00000258443.2_Silent_p.L117L|EDAR_ENST00000376651.1_Silent_p.L117L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	117					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTACCCAGGGAGGCAAGGGC	0.597000													10	28					0	0	0.00136819	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245555	94245555	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:94245555G>C	ENST00000393140.1	-	3	298	c.196C>G	c.(196-198)Ccc>Gcc	p.P66A	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P66A|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P66A	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	66	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ggtggcgggggtgggggcggc	0.637000													2	0					0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9048603	9048603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9048603G>A	ENST00000397910.4	-	5	33231	c.33028C>T	c.(33028-33030)Cct>Tct	p.P11010S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11012	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCACCAGGAGAAAGAGTC	0.507000													12	28					0	0	0.00185496	0	0
YTHDC2	64848	broad.mit.edu	37	5	112920076	112920076	+	Missense_Mutation	SNP	G	G	A	rs149701893		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:112920076G>A	ENST00000161863.4	+	26	3938	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1242							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CATCCTAAACGAGGTACTGAG	0.448000													28	35					0	0	0.000878237	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711005	140711005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140711005C>T	ENST00000517417.1	+	1	754	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P252S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAAATGTCCCCGAAAACGT	0.483000													22	36					0	0	0.00278032	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242471	8242471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8242471C>T	ENST00000539824.1	+	18	3946	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	SH3TC1_ENST00000245105.3_Missense_Mutation_p.A1267V			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1267							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTGGCAGCCGCCGTGGACCTG	0.612000													31	32					0	0	0.00209593	0	0
PTH1R	5745	broad.mit.edu	37	3	46944973	46944973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46944973C>T	ENST00000313049.5	+	14	1812	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	PTH1R_ENST00000449590.1_Missense_Mutation_p.H537Y|PTH1R_ENST00000430002.2_Missense_Mutation_p.H537Y|PTH1R_ENST00000418619.1_Missense_Mutation_p.H537Y			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	537						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCTGCCTGGCCATGCCAAGCC	0.677000													32	33					0	0	0.0024448	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800065	74800065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:74800065G>A	ENST00000305159.3	-	1	734	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GAACTGATGCGAAGCACTGAG	0.577000													11	13					0	0	0.00244969	0	0
RDM1	201299	broad.mit.edu	37	17	34249679	34249679	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:34249679C>T	ENST00000394529.3	-	4	986	c.499_splice	c.e4-1	p.G167_splice	RDM1_ENST00000394528.3_Splice_Site_p.G190_splice|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000430160.2_Splice_Site_p.G167_splice|RDM1_ENST00000293273.6_Splice_Site_p.G190_splice|RDM1_ENST00000394527.1_Splice_Site_p.D111_splice|RDM1_ENST00000591402.1_Intron	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	190					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGATAATGGTCCTAAATCCAA	0.348000								Other identified genes with known or suspected DNA repair function					50	169					0	0	0.000781405	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45694681	45694681	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:45694681C>T	ENST00000305560.6	+	1	153	c.54C>T	c.(52-54)ccC>ccT	p.P18P	SPATA5L1_ENST00000559860.1_Silent_p.P18P	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	18						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCTGCTACCCTTAGACGCTA	0.652000													6	7					0	0	0.000157383	0	0
PLCE1	51196	broad.mit.edu	37	10	95791424	95791424	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:95791424C>T	ENST00000260766.3	+	2	1255	c.621C>T	c.(619-621)aaC>aaT	p.N207N	PLCE1_ENST00000371380.2_Silent_p.N207N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	207					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TATCAGAAAACTTAATTTTAG	0.408000													13	18					0	0	0.00185496	0	0
NCOA6	23054	broad.mit.edu	37	20	33329375	33329375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33329375G>A	ENST00000374796.2	-	12	7255	c.4685C>T	c.(4684-4686)cCc>cTc	p.P1562L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1562L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1562					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTCAATTCGGGATGCACAAG	0.463000													172	77					0	0	0.000781405	0	0
MRPS6	64968	broad.mit.edu	37	21	35514811	35514811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:35514811C>T	ENST00000399312.2	+	3	467	c.289C>T	c.(289-291)Cct>Tct	p.P97S	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	97					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGTCAAACACCCTCTGACCCA	0.438000													119	210					0	0	0.000781405	0	0
TTC18	118491	broad.mit.edu	37	10	75082781	75082781	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75082781C>T	ENST00000310715.3	-	10	1182	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.V354V|TTC18_ENST00000394865.1_Silent_p.V354V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	354							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAATTCTCTTCACACCTGGAT	0.373000													26	45					0	0	0.00127121	0	0
ZNF311	282890	broad.mit.edu	37	6	28962847	28962847	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:28962847C>T	ENST00000377179.3	-	7	2444	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTTCCTACTCCCATCAAGTT	0.398000													16	20					0	0	0.00074312	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45524428	45524428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:45524428G>A	ENST00000359600.5	-	4	1310	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	369							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGCATTTCTCGAACCTGACAC	0.483000													36	59					0	0	0.000781405	0	0
MAGI2	9863	broad.mit.edu	37	7	77708331	77708331	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:77708331G>A	ENST00000354212.4	-	21	3892	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L	MAGI2_ENST00000419488.1_Silent_p.L1199L|MAGI2_ENST00000522391.1_Silent_p.L1213L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1213	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGATTTGATGAGTTCTATTG	0.443000													56	89					0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38997535	38997535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:38997535G>A	ENST00000355481.4	+	57	8890	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R2920Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2920Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2920	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACGAGATCGAGAGAAGGCC	0.622000													29	20					0	0	0.000692331	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													18	29					0	0	0.00278032	0	0
CA4	762	broad.mit.edu	37	17	58234034	58234034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:58234034G>A	ENST00000300900.4	+	3	325	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	76					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTCTGGCTACGATAAGAAGCA	0.572000													18	42					0	0	0.00229938	0	0
MTTP	4547	broad.mit.edu	37	4	100528101	100528101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:100528101C>T	ENST00000457717.1	+	12	1797	c.1541C>T	c.(1540-1542)cCt>cTt	p.P514L	MTTP_ENST00000265517.5_Missense_Mutation_p.P514L|MTTP_ENST00000511045.1_Missense_Mutation_p.P541L|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	514	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATGATCTCCCTTTCATAACT	0.433000													14	16					0	0	0.00244969	0	0
AKAP4	8852	broad.mit.edu	37	X	49958662	49958662	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:49958662C>T	ENST00000376056.2	-	5	825	c.675G>A	c.(673-675)aaG>aaA	p.K225K	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.K234K|AKAP4_ENST00000376064.3_Silent_p.K225K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	234	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGATTTCCTTATGGGCCA	0.458000													22	8					0	0	0.00278032	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084307	26084307	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:26084307C>T	ENST00000478176.1	-	0	150					NR_003678.1													p.D37N(1)									AATGCTGGATCCTTTAGAGAA	0.393000													7	52					0	0	0.00198382	0	0
IL18R1	8809	broad.mit.edu	37	2	103013002	103013002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:103013002G>A	ENST00000409599.1	+	12	1638	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E428K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	428	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTGTTGATGAAATCCACTC	0.343000													20	30					0	0	0.00188189	0	0
FCAR	2204	broad.mit.edu	37	19	55399441	55399441	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55399441C>T	ENST00000355524.3	+	4	439	c.429C>T	c.(427-429)tcC>tcT	p.S143S	FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Silent_p.S143S|FCAR_ENST00000353758.4_Silent_p.S34S|FCAR_ENST00000469767.1_Silent_p.S143S|FCAR_ENST00000391724.3_Silent_p.S131S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391723.3_Silent_p.S131S|FCAR_ENST00000359272.4_Silent_p.S131S	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	143	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGAATATTTCCCTCACGTGCA	0.502000													15	34					0	0	0.000422831	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889697	18889697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:18889697C>T	ENST00000380548.4	+	25	4933	c.4594C>T	c.(4594-4596)Cgc>Tgc	p.R1532C	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.R233C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1532						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1532C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGGAAGGTTCGCCCTGCGGT	0.667000													5	8					0	0	0.00116845	0	0
ANK2	287	broad.mit.edu	37	4	114208794	114208794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:114208794G>A	ENST00000357077.4	+	19	2166	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ANK2_ENST00000264366.6_Missense_Mutation_p.E705K|ANK2_ENST00000506722.1_Missense_Mutation_p.E684K|ANK2_ENST00000394537.3_Missense_Mutation_p.E705K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	705					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGCCCAGGAAGATAAAGT	0.398000													7	19					0	0	0.000157383	0	0
SETD2	29072	broad.mit.edu	37	3	47163851	47163851	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:47163851T>C	ENST00000409792.3	-	3	2317	c.2275A>G	c.(2275-2277)Aaa>Gaa	p.K759E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GACATGAGTTTATCTTGGTGT	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma								63	101					0	0	0.000781405	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032744	41032744	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:41032744G>A	ENST00000380620.3	+	5	850	c.258G>A	c.(256-258)gtG>gtA	p.V86V	B3GALT5_ENST00000380618.1_Silent_p.V86V|B3GALT5_ENST00000398714.2_Silent_p.V86V|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.V86V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	86					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGAGGATGGTGAAGGGAAAGC	0.592000													11	13					0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92614005	92614005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:92614005G>A	ENST00000298047.6	+	22	12253	c.12236G>A	c.(12235-12237)gGa>gAa	p.G4079E	FAT3_ENST00000525166.1_Missense_Mutation_p.G3929E|FAT3_ENST00000409404.2_Missense_Mutation_p.G4079E|FAT3_ENST00000533797.1_Missense_Mutation_p.G414E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4079	EGF-like 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCCAATAGGAAACACTTTC	0.448000										TCGA Ovarian(4;0.039)			139	210					0	0	0.000781405	0	0
PVR	5817	broad.mit.edu	37	19	45150799	45150799	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45150799C>T	ENST00000425690.3	+	2	683	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Silent_p.F128F|PVR_ENST00000406449.4_Silent_p.F128F|PVR_ENST00000403059.4_Silent_p.F128F	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	128	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGTCACGTTCCCGCAGGGCA	0.607000													60	86					0	0	0.000781405	0	0
SYT3	84258	broad.mit.edu	37	19	51140539	51140539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51140539G>A	ENST00000338916.4	-	1	763	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	SYT3_ENST00000600079.1_Missense_Mutation_p.P44S|SYT3_ENST00000593901.1_Missense_Mutation_p.P44S|SYT3_ENST00000544769.1_Missense_Mutation_p.P44S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	44						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGACCCCGGGGATAGCCTCGG	0.627000													31	47					0	0	0.00283554	0	0
CWC15	51503	broad.mit.edu	37	11	94705258	94705258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94705258G>A	ENST00000279839.6	-	2	214	c.92C>T	c.(91-93)tCa>tTa	p.S31L	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	31					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCTCTGCTTGAATACTGCTT	0.413000													72	105					0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	104924360	104924360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:104924360G>A	ENST00000507740.1	+	4	1432	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	RIMS2_ENST00000406091.3_Missense_Mutation_p.G591E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G369E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G446E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	669					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTAAAAGATGGAAGTGTACCT	0.373000										HNSCC(12;0.0054)			32	40					0	0	0.000692331	0	0
TRANK1	9881	broad.mit.edu	37	3	36872699	36872699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:36872699C>T	ENST00000301807.6	-	21	8490	c.6593G>A	c.(6592-6594)gGg>gAg	p.G2198E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2198E|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2748E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2748					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAAGCTGCCCCCTCAAACGC	0.542000													21	25					0	0	0.00188189	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643950	88643950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:88643950C>T	ENST00000301011.5	+	2	619	c.419C>T	c.(418-420)cCc>cTc	p.P140L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P140L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	140						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAGCCAGCTCCCGCCGTCCAG	0.612000													8	17					0	0	0.000274275	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797744	68797744	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68797744T>A	ENST00000508048.1	-	4	319	c.284A>T	c.(283-285)aAa>aTa	p.K95I	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.K96I|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.K99I			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	99	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GATATAATTTTTCTTCCAGGC	0.353000													21	37					0	0	0.000720815	0	0
JAK2	3717	broad.mit.edu	37	9	5064921	5064921	+	Silent	SNP	C	C	T	rs140973912		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:5064921C>T	ENST00000381652.3	+	9	1589	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	JAK2_ENST00000544510.1_Silent_p.F216F|JAK2_ENST00000539801.1_Silent_p.F365F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	365	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTTTGTCTTTCGTGTCATTAA	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				31	65					0	0	0.00111076	0	0
DYDC1	143241	broad.mit.edu	37	10	82098294	82098294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:82098294C>T	ENST00000421924.2	-	6	844	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DYDC1_ENST00000372204.3_Missense_Mutation_p.E145K|DYDC1_ENST00000372202.1_Missense_Mutation_p.E145K			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	145										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TCGCTGATTTCAGCTAGTGTT	0.328000													43	61					0	0	0.000781405	0	0
LAMB3	3914	broad.mit.edu	37	1	209796339	209796339	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:209796339C>T	ENST00000391911.1	-	16	2933	c.2544G>A	c.(2542-2544)cgG>cgA	p.R848R	LAMB3_ENST00000356082.4_Silent_p.R848R|LAMB3_ENST00000367030.3_Silent_p.R848R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	848	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCTGCCTGGTCCGCTGGAGCT	0.652000													47	134					0	0	0.000781405	0	0
MT4	84560	broad.mit.edu	37	16	56602761	56602761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:56602761C>T	ENST00000219162.3	+	3	186	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	36						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						AGGCTGCTGTCCCTGCTGCCC	0.587000													39	88					0	0	0.00170553	0	0
RPTOR	57521	broad.mit.edu	37	17	78931465	78931465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78931465C>T	ENST00000306801.3	+	29	3774	c.3412C>T	c.(3412-3414)Ctc>Ttc	p.L1138F	RPTOR_ENST00000544334.2_Missense_Mutation_p.L980F|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1138					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACCGGCCTCCTCATGAGCTC	0.622000													110	76					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9069660	9069660	+	Missense_Mutation	SNP	G	G	A	rs74872724	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9069660G>A	ENST00000397910.4	-	3	17989	c.17786C>T	c.(17785-17787)tCc>tTc	p.S5929F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5931	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGCACTGGGGAAGAAGGAGA	0.498000													15	24					0	0	0.000566183	0	0
JMJD6	23210	broad.mit.edu	37	17	74714800	74714800	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:74714800G>A	ENST00000585429.1	-	5	1111	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	JMJD6_ENST00000445478.2_Intron|JMJD6_ENST00000397625.4_3'UTR			Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	0	Ser-rich.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ACAGACAACAGCCTTGCTGGG	0.627000													44	25					0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238277770	238277770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238277770C>T	ENST00000295550.4	-	10	4788	c.4336G>A	c.(4336-4338)Gga>Aga	p.G1446R	COL6A3_ENST00000346358.4_Missense_Mutation_p.G1246R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1240R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1245R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G839R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1240R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1446	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCTAACTCCCTCAGAGCTG	0.468000													21	29					0	0	0.00188189	0	0
ANKRD45	339416	broad.mit.edu	37	1	173594003	173594003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:173594003G>A	ENST00000333279.2	-	5	713	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	234										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTCATTAATGGAAGCTTCTGT	0.393000													18	51					0	0	0.00074312	0	0
C2orf16	84226	broad.mit.edu	37	2	27803256	27803256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:27803256G>A	ENST00000408964.2	+	1	3868	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1273										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACTCAGAATGAAAAACGGGC	0.398000													37	79					0	0	0.00170553	0	0
FAM13A	10144	broad.mit.edu	37	4	89688742	89688742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:89688742C>T	ENST00000264344.5	-	13	1747	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	FAM13A_ENST00000513837.1_Missense_Mutation_p.G160R|FAM13A_ENST00000508369.1_Missense_Mutation_p.G188R|FAM13A_ENST00000511976.1_Missense_Mutation_p.G100R|FAM13A_ENST00000503556.1_Missense_Mutation_p.G174R|FAM13A_ENST00000395002.2_Missense_Mutation_p.G188R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTTTCATTTCCTTTCCTATAA	0.333000													10	27					0	0	0.00136819	0	0
MPZ	4359	broad.mit.edu	37	1	161275677	161275677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:161275677C>T	ENST00000533357.1	-	6	802	c.736G>A	c.(736-738)Gat>Aat	p.D246N	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Missense_Mutation_p.D50N|MPZ_ENST00000336559.4_Silent_p.R245R|MPZ_ENST00000360451.6_Missense_Mutation_p.D256N	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	246					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TATTTCTTATCCTTGCGAGAC	0.597000													18	72					0	0	0.00229938	0	0
RDH16	8608	broad.mit.edu	37	12	57351000	57351000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:57351000C>T	ENST00000398138.3	-	1	1103	c.247G>A	c.(247-249)Gat>Aat	p.D83N	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	83					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTGGTAACATCCAGGGTCACC	0.592000													29	31					0	0	0.0024448	0	0
CAD	790	broad.mit.edu	37	2	27454446	27454446	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:27454446A>G	ENST00000264705.4	+	16	2560	c.2398A>G	c.(2398-2400)Atg>Gtg	p.M800V	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.M737V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	800	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGTCAGCGATATGGTAAGTAG	0.537000													21	19					0	0	0.00229938	0	0
STARD13	90627	broad.mit.edu	37	13	33703805	33703805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:33703805C>T	ENST00000336934.5	-	5	1125	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	STARD13_ENST00000399365.3_Missense_Mutation_p.E219K|STARD13_ENST00000255486.4_Missense_Mutation_p.E329K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	337					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGCTGTGCTCCGACGGGCTG	0.607000													22	28					0	0	0.000586117	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039544	2039544	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:2039544C>A	ENST00000382203.1	+	4	643	c.434C>A	c.(433-435)cCa>cAa	p.P145Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P145Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P145Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P145Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	145					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGCCCAACTCCACCTCAGATG	0.567000													28	54					2.4375e-19	9.3274e-19	0.00127121	1	0
DPY19L1	23333	broad.mit.edu	37	7	35013200	35013200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:35013200C>T	ENST00000310974.4	-	8	765	c.621G>A	c.(619-621)tgG>tgA	p.W207*	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	207						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GAGGTGGTGTCCACATTACAC	0.313000													10	14					0	0	0.00185496	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176163	140176163	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140176163G>A	ENST00000526136.1	+	1	1614	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	PCDHA2_ENST00000520672.2_Silent_p.R538R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.R538R|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGGGATGCGGGCG	0.677000													38	50					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13830179	13830179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13830179C>T	ENST00000265104.4	-	37	6309	c.6205G>A	c.(6205-6207)Gat>Aat	p.D2069N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2069	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCACATTATCTCCATCAGTA	0.383000									Kartagener syndrome				21	33					0	0	0.00047179	0	0
COL6A3	1293	broad.mit.edu	37	2	238275390	238275390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238275390C>T	ENST00000295550.4	-	11	5892	c.5440G>A	c.(5440-5442)Gaa>Aaa	p.E1814K	COL6A3_ENST00000346358.4_Missense_Mutation_p.E1614K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1608K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1613K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1207K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1608K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1814	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.E1814*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCAAAGTTTCCAAAACTTGC	0.507000													33	44					0	0	0.0024448	0	0
DLEC1	9940	broad.mit.edu	37	3	38138118	38138118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38138118G>A	ENST00000308059.6	+	15	2251	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E744K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E744K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	744					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTGTCCTGGAAATCGAGGT	0.507000													55	62					0	0	0.000781405	0	0
C11orf70	85016	broad.mit.edu	37	11	101937378	101937378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:101937378G>A	ENST00000434758.2	+	4	459	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	C11orf70_ENST00000526781.1_Missense_Mutation_p.R144Q|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	144								p.R106Q(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GATGAGTTACGAAGAGTAAGT	0.308000													27	52					0	0	0.000720815	0	0
COL6A3	1293	broad.mit.edu	37	2	238296653	238296653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238296653G>A	ENST00000295550.4	-	4	1336	c.884C>T	c.(883-885)tCc>tTc	p.S295F	COL6A3_ENST00000346358.4_Missense_Mutation_p.S295F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S89F|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S89F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.S89F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	295	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGTCCAAGGAGAACATGGT	0.547000													18	24					0	0	0.00121646	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531867	75531867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:75531867G>A	ENST00000297785.3	-	9	1058	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	335					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGGGGTCAGAGGATTTCCAAG	0.413000													20	30					0	0	0.00121646	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074031	29074031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:29074031G>A	ENST00000306108.5	-	5	1242	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	407							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TCTACTTTTTGAGCTAAAATT	0.383000													21	45					0	0	0.00152264	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482753	76482753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:76482753C>T	ENST00000307431.8	+	7	1214	c.829C>T	c.(829-831)Cag>Tag	p.Q277*	CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Q253*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Q277*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Q281*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	278	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTGCTCATCCAGCGTTTGGG	0.488000													9	12					0	0	0.000442599	0	0
PMP2	5375	broad.mit.edu	37	8	82357094	82357094	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:82357094G>A	ENST00000256103.2	-	2	340	c.204C>T	c.(202-204)ggC>ggT	p.G68G	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	68						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CAAATTCCTGGCCTAGCTTGA	0.393000													31	48					0	0	0.00058488	0	0
NOTCH4	4855	broad.mit.edu	37	6	32182001	32182001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32182001C>T	ENST00000375023.3	-	13	2191	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	685	EGF-like 17.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACTCTGGCCCCGTCCAACCC	0.597000													78	151					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143013372	143013372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:143013372C>T	ENST00000343257.2	+	1	154	c.67C>T	c.(67-69)Cag>Tag	p.Q23*		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	23					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCCAGTACCAGTATATGCC	0.637000													16	31					0	0	0.000308642	0	0
PUM1	9698	broad.mit.edu	37	1	31425184	31425184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:31425184G>A	ENST00000373747.3	-	16	2720	c.2621C>T	c.(2620-2622)gCc>gTc	p.A874V	PUM1_ENST00000426105.2_Missense_Mutation_p.A873V|PUM1_ENST00000440538.2_Missense_Mutation_p.A847V|PUM1_ENST00000424085.2_Missense_Mutation_p.A631V|PUM1_ENST00000257075.5_Missense_Mutation_p.A873V|PUM1_ENST00000373741.4_Missense_Mutation_p.A909V|PUM1_ENST00000373742.2_Missense_Mutation_p.A814V|PUM1_ENST00000423018.2_Missense_Mutation_p.A729V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	873	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGCTGGTGTGGCACGCTCCAG	0.458000													17	31					0	0	0.00121646	0	0
LINGO2	158038	broad.mit.edu	37	9	27949715	27949715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:27949715C>T	ENST00000379992.2	-	6	1404	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	LINGO2_ENST00000308675.3_Missense_Mutation_p.G319R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	319						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAGCGGAGCCCTTGGAAGGAG	0.542000													21	49					0	0	0.00278032	0	0
LRP12	29967	broad.mit.edu	37	8	105509290	105509290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:105509290G>A	ENST00000276654.5	-	5	1598	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	LRP12_ENST00000424843.2_Missense_Mutation_p.A478V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	497					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTATGACGGCAGCAGTGAT	0.448000													24	39					0	0	0.00106085	0	0
RELN	5649	broad.mit.edu	37	7	103130325	103130325	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:103130325G>A	ENST00000428762.1	-	60	9786	c.9627C>T	c.(9625-9627)atC>atT	p.I3209I	RELN_ENST00000343529.5_Silent_p.I3209I|RELN_ENST00000424685.2_Silent_p.I3209I|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCCTTCTGGATCCAGCGGA	0.542000													23	26					0	0	0.000878237	0	0
TEKT1	83659	broad.mit.edu	37	17	6716272	6716272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:6716272G>A	ENST00000338694.2	-	6	859	c.730C>T	c.(730-732)Cga>Tga	p.R244*	TEKT1_ENST00000535086.1_Nonsense_Mutation_p.R98*	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	244					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R244*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GACAGGATTCGATCCACCAGG	0.537000													32	15					0	0	0.00283554	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538049	24538049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:24538049G>A	ENST00000342740.5	+	38	4010	c.3856G>A	c.(3856-3858)Ggc>Agc	p.G1286S	LRRC16B_ENST00000334420.7_Missense_Mutation_p.G339S	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1286										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGCCCAGGGGCCGCCAGCC	0.642000													16	13					0	0	0.00152264	0	0
ROBO3	64221	broad.mit.edu	37	11	124749733	124749733	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124749733C>T	ENST00000397801.1	+	26	4039	c.3847C>T	c.(3847-3849)Cta>Tta	p.L1283L	ROBO3_ENST00000543966.1_Silent_p.L46L|ROBO3_ENST00000538940.1_Silent_p.L1261L|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1283					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCTGGGCCCTAGAGCTGAG	0.677000													6	16					0	0	0.00198382	0	0
CACHD1	57685	broad.mit.edu	37	1	65099822	65099822	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:65099822G>A	ENST00000371073.2	+	7	885	c.885G>A	c.(883-885)agG>agA	p.R295R	CACHD1_ENST00000290039.5_Silent_p.R244R|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	295	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACAAAAAGGAAAATGTCCA	0.473000													32	33					0	0	0.00209593	0	0
BMP7	655	broad.mit.edu	37	20	55803385	55803385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:55803385C>T	ENST00000395863.3	-	2	1016	c.511G>A	c.(511-513)Gca>Aca	p.A171T	BMP7_ENST00000450594.2_Missense_Mutation_p.A171T|BMP7_ENST00000395864.3_Missense_Mutation_p.A171T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	171					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AATTCGGCTGCCGTGACAGCT	0.532000													149	84					0	0	0.000781405	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754857	140754857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140754857C>T	ENST00000517434.1	+	1	1207	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTATTATCGATTAGTGAC	0.458000													28	53					0	0	0.001512	0	0
KRT74	121391	broad.mit.edu	37	12	52963700	52963700	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:52963700C>T	ENST00000549343.1	-	6	1115	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KRT74_ENST00000305620.2_Silent_p.V359V			Q7RTS7	K2C74_HUMAN	keratin 74	359	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTTCAGCTCCACCATCTCGC	0.582000													18	34					0	0	0.000566183	0	0
ABCA8	10351	broad.mit.edu	37	17	66936982	66936982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:66936982G>A	ENST00000269080.2	-	3	355	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ABCA8_ENST00000430352.2_Missense_Mutation_p.S73F|ABCA8_ENST00000586539.1_Missense_Mutation_p.S73F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	73						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAAAATCTGGATTCATTAAA	0.383000													41	25					0	0	0.00195071	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:79689912C>T	ENST00000261205.4	+	7	1195	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_ENST00000552744.1_Missense_Mutation_p.P180S|SYT1_ENST00000457153.2_Missense_Mutation_p.P177S|SYT1_ENST00000393240.3_Missense_Mutation_p.P180S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000													22	34					0	0	0.00278032	0	0
GALNT2	2590	broad.mit.edu	37	1	230338945	230338945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:230338945G>A	ENST00000366672.4	+	3	355	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	GALNT2_ENST00000541865.1_Missense_Mutation_p.G5R|GALNT2_ENST00000543760.1_Missense_Mutation_p.G57R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	95					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTCCGCTCCGGGCAGGACCC	0.542000													36	108					0	0	0.00058488	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793665	140793665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140793665C>T	ENST00000398610.2	+	1	923	c.923C>T	c.(922-924)tCa>tTa	p.S308L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAAATATCAGAAAATCTA	0.343000													7	18					0	0	0.000157383	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246970	43246970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:43246970G>A	ENST00000255226.6	+	13	2444	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q	SLC14A2_ENST00000586448.1_Missense_Mutation_p.R543Q|SLC14A2_ENST00000589658.1_Missense_Mutation_p.R20Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	543						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGATTCGGAGTTCCATG	0.483000													25	32					0	0	0.00047179	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407493	75407493	+	Silent	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75407493C>A	ENST00000394810.2	-	4	2066	c.1917G>T	c.(1915-1917)ccG>ccT	p.P639P	SYNPO2L_ENST00000372873.4_Silent_p.P415P|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	639	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.P639P(1)|p.P415P(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTCCTTTCCCGGCCGGAACA	0.672000													6	102					0.00198382	0.0074215	0.00198382	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209885	140209885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140209885C>T	ENST00000529310.1	+	1	2323	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGACAAGCCCACGCTGGT	0.682000													12	24					0	0	0.00136819	0	0
DYSF	8291	broad.mit.edu	37	2	71791229	71791229	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:71791229G>A	ENST00000258104.3	+	24	2674	c.2397G>A	c.(2395-2397)caG>caA	p.Q799Q	DYSF_ENST00000429174.2_Silent_p.Q799Q|DYSF_ENST00000409762.1_Silent_p.Q816Q|DYSF_ENST00000394120.2_Silent_p.Q800Q|DYSF_ENST00000409651.1_Silent_p.Q831Q|DYSF_ENST00000413539.2_Silent_p.Q830Q|DYSF_ENST00000410020.3_Silent_p.Q817Q|DYSF_ENST00000410041.1_Silent_p.Q817Q|DYSF_ENST00000409366.1_Silent_p.Q800Q|DYSF_ENST00000409582.3_Silent_p.Q816Q|DYSF_ENST00000409744.1_Silent_p.Q786Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	799						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGATGCTGCAGGGAGACAAGC	0.632000													30	28					0	0	0.0024448	0	0
HRNR	388697	broad.mit.edu	37	1	152192060	152192060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152192060G>A	ENST00000368801.2	-	3	2120	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	682					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCAACCGGAGCCAGACCC	0.587000													104	66					0	0	0.000781405	0	0
ITGA11	22801	broad.mit.edu	37	15	68643004	68643004	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:68643004G>A	ENST00000423218.2	-	9	1106	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	ITGA11_ENST00000315757.7_Silent_p.A337A			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	337	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTCCTTCAAGGCAGCCTCAT	0.488000													16	44					0	0	0.000958276	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203701	94203701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:94203701G>A	ENST00000393140.1	-	4	347	c.245C>T	c.(244-246)tCt>tTt	p.S82F	PRIMA1_ENST00000316227.3_Missense_Mutation_p.S82F|PRIMA1_ENST00000393143.1_Missense_Mutation_p.S82F	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	82					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		AGTGGGGCAAGAGGTAGAGTT	0.552000													8	23					0	0	0.000274275	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					synaptic transmission	integral to plasma membrane		p.M518I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000													19	20					0	0	0.00121646	0	0
NUP188	23511	broad.mit.edu	37	9	131752415	131752415	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:131752415C>T	ENST00000372577.2	+	25	2571	c.2550C>T	c.(2548-2550)aaC>aaT	p.N850N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	850					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGAAACAACCTCATTGCTG	0.458000													144	240					0	0	0.000781405	0	0
ABCA8	10351	broad.mit.edu	37	17	66903943	66903943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:66903943G>A	ENST00000269080.2	-	16	2233	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S739L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S739L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	699						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTTTTGGCTGATAATTTGGC	0.313000													35	29					0	0	0.000814825	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890640	23890640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:23890640C>T	ENST00000532292.1	-	1	535	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGCAAAGATCATGCGGTCTT	0.597000													15	30					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24922593	24922593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:24922593C>T	ENST00000329468.2	+	1	2053	c.1579C>T	c.(1579-1581)Ctt>Ttt	p.L527F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCTCCTCCTCTTTCCTTCCT	0.527000													47	103					0	0	0.000781405	0	0
CDS2	8760	broad.mit.edu	37	20	5154287	5154287	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:5154287T>G	ENST00000460006.1	+	2	483	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	59					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AATAGGGCCCTTTCCAACTTG	0.567000													72	101					0	0	0.000781405	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926467	22926467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:22926467G>A	ENST00000261374.3	+	2	1122	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	230						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACCTTTGAGGGCCTCTCCTT	0.602000													35	50					0	0	0.00195071	0	0
CCDC170	80129	broad.mit.edu	37	6	151894487	151894487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:151894487C>T	ENST00000367290.5	+	6	1042	c.953C>T	c.(952-954)aCc>aTc	p.T318I	CCDC170_ENST00000239374.7_Missense_Mutation_p.T318I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	318																	GCAGTCACAACCTCACAAAGC	0.507000													29	15					0	0	0.000692331	0	0
OR8B4	283162	broad.mit.edu	37	11	124294185	124294185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124294185C>T	ENST00000356130.3	-	1	604	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATACCAGCTCACTGACATGG	0.473000													6	9					0	0	0.000157383	0	0
TSSC1	7260	broad.mit.edu	37	2	3196249	3196249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:3196249G>A	ENST00000398659.4	-	9	1146	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.P309S			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	309							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGGCCGAAGGGCTCCGACGAG	0.572000													24	39					0	0	0.000720815	0	0
CPT1B	1375	broad.mit.edu	37	22	51011433	51011433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:51011433G>A	ENST00000360719.2	-	11	1360	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	CPT1B_ENST00000405237.3_Missense_Mutation_p.A408V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A408V|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Missense_Mutation_p.A374V|CPT1B_ENST00000434492.2_Missense_Mutation_p.A205V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.A408V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	408					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGCCTCCAAGGCAGCCTTATT	0.597000													22	38					0	0	0.00152264	0	0
HLTF	6596	broad.mit.edu	37	3	148792076	148792076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:148792076C>T	ENST00000310053.5	-	4	648	c.455G>A	c.(454-456)gGa>gAa	p.G152E	HLTF_ENST00000494055.1_Missense_Mutation_p.G152E|HLTF_ENST00000392912.2_Missense_Mutation_p.G152E|HLTF_ENST00000465259.1_Missense_Mutation_p.G152E	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	152					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTTCTTTTCCCCAAAAAGT	0.353000													31	45					0	0	0.00209593	0	0
SMAD6	4091	broad.mit.edu	37	15	67073700	67073700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:67073700G>A	ENST00000288840.5	+	4	2349	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	SMAD6_ENST00000338426.4_Missense_Mutation_p.D179N	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	440	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CAAGGTGTTCGACTTCGAGCG	0.726000													10	16					0	0	0.000673444	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947358	37947358	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:37947358G>C	ENST00000373087.6	+	4	856	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	247					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACACATACCGTGACCTCCAA	0.582000													26	35					0	0	0.000720815	0	0
DLC1	10395	broad.mit.edu	37	8	12957202	12957202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:12957202C>T	ENST00000276297.4	-	9	3053	c.2644G>A	c.(2644-2646)Gtg>Atg	p.V882M	DLC1_ENST00000512044.2_Missense_Mutation_p.V479M|DLC1_ENST00000358919.2_Missense_Mutation_p.V445M|DLC1_ENST00000520226.1_Missense_Mutation_p.V371M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	882					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGCCCGGCACGTTGTCGTAG	0.582000													8	5					0	0	0.000274275	0	0
KIF19	124602	broad.mit.edu	37	17	72350551	72350551	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:72350551C>T	ENST00000389916.4	+	18	2697	c.2559C>T	c.(2557-2559)gcC>gcT	p.A853A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	853					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGGGCGAGGCCCCGTCCCGGG	0.682000													14	14					0	0	0.000308642	0	0
PPEF2	5470	broad.mit.edu	37	4	76793176	76793176	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:76793176G>A	ENST00000286719.7	-	13	2006		c.e13+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAAAGTCTTGCCTTTGCCTC	0.403000													19	57					0	0	0.00229938	0	0
ZNF431	170959	broad.mit.edu	37	19	21365636	21365636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:21365636C>T	ENST00000311048.7	+	5	674	c.530C>T	c.(529-531)cCa>cTa	p.P177L	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAATATTTCCATGTGATAAA	0.328000													17	32					0	0	0.000566183	0	0
OR6S1	341799	broad.mit.edu	37	14	21109460	21109460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:21109460G>A	ENST00000320704.3	-	1	390	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAGCGCAGAGGATGACAGATG	0.572000													4	21					0	0	0.000602214	0	0
CNTN4	152330	broad.mit.edu	37	3	3080684	3080684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:3080684G>A	ENST00000397461.1	+	18	2544	c.2160G>A	c.(2158-2160)tgG>tgA	p.W720*	CNTN4_ENST00000397459.2_Nonsense_Mutation_p.W392*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.W392*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.W501*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W720*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W720*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	720	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTATAACCTGGGAGGTAAATG	0.438000													20	46					0	0	0.00188189	0	0
ANGPT4	51378	broad.mit.edu	37	20	896675	896675	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:896675G>A	ENST00000381922.3	-	1	285	c.183C>T	c.(181-183)gtC>gtT	p.V61V	ANGPT4_ENST00000546022.1_Silent_p.V61V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	61					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGTCCCTGGAGACCTCAGGCC	0.622000													28	59					0	0	0.00209593	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966593	23966593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:23966593G>A	ENST00000335694.4	-	4	527	c.323C>T	c.(322-324)tCc>tTc	p.S108F	GGTLC1_ENST00000278765.4_Missense_Mutation_p.S108F|GGTLC1_ENST00000286890.4_Missense_Mutation_p.S108F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	108							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGGCACATGGACGAGAGCGG	0.682000													42	56					0	0	0.000781405	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198506	170198506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:170198506G>A	ENST00000231706.4	-	7	1880	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	522						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGATTCATCAGCTTCTATGCC	0.458000													66	115					0	0	0.000781405	0	0
PLA1A	51365	broad.mit.edu	37	3	119336910	119336910	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:119336910T>C	ENST00000273371.4	+	7	871	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	PLA1A_ENST00000494440.1_Missense_Mutation_p.Y251H|PLA1A_ENST00000495992.1_Missense_Mutation_p.Y251H|PLA1A_ENST00000488919.1_Missense_Mutation_p.Y94H	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	267					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCACCTCTACATCAGCGC	0.473000													69	121					0	0	0.000781405	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:24621549C>T	ENST00000327365.4	-	9	1717	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_ENST00000263112.7_Missense_Mutation_p.R402Q|GGT5_ENST00000398292.3_Missense_Mutation_p.R434Q|GGT5_ENST00000418439.2_Missense_Mutation_p.R357Q	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000													13	17					0	0	0.00074312	0	0
MTA2	9219	broad.mit.edu	37	11	62361997	62361997	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62361997G>A	ENST00000278823.2	-	16	2072	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	MTA2_ENST00000527204.1_Silent_p.A388A|MTA2_ENST00000524902.1_Silent_p.A388A	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	561					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CAGTCTCATAGGCCCGTTTCA	0.547000													35	31					0	0	0.00111076	0	0
OR14K1	343170	broad.mit.edu	37	1	247902770	247902770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247902770C>T	ENST00000283225.2	+	1	854	c.854C>T	c.(853-855)cCt>cTt	p.P285L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACCTTGAACCCTGTTATCTAC	0.433000													13	44					0	0	0.00244969	0	0
MUC2	4583	broad.mit.edu	37	11	1096475	1096475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:1096475C>T	ENST00000441003.2	+	34	6527	c.6500C>T	c.(6499-6501)cCc>cTc	p.P2167L	MUC2_ENST00000361558.6_Missense_Mutation_p.P305L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4529						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACTGCGATCCCAACGACAAG	0.577000													26	41					0	0	0.00127121	0	0
ULK1	8408	broad.mit.edu	37	12	132398952	132398952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132398952C>T	ENST00000321867.4	+	16	1654	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	435					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCCAGTCCCCACGCAGGT	0.637000													22	19					0	0	0.00152264	0	0
PTPRE	5791	broad.mit.edu	37	10	129846043	129846043	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:129846043G>A	ENST00000254667.3	+	5	504	c.225G>A	c.(223-225)agG>agA	p.R75R	PTPRE_ENST00000419012.2_Silent_p.R75R|PTPRE_ENST00000471218.1_Silent_p.R75R|PTPRE_ENST00000306042.5_Silent_p.R17R|PTPRE_ENST00000430713.2_Silent_p.R75R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	75					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGAAGCAGAGGAAAGCTGTGG	0.552000													22	34					0	0	0.00278032	0	0
ASPM	259266	broad.mit.edu	37	1	197071094	197071094	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197071094G>A	ENST00000367409.4	-	18	7543	c.7287C>T	c.(7285-7287)tcC>tcT	p.S2429S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2429	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTGAGGGAAATGAATC	0.378000													5	11					0	0	0.000602214	0	0
TTLL9	164395	broad.mit.edu	37	20	30527068	30527068	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:30527068C>T	ENST00000375938.4	+	14	1495	c.1243_splice	c.e14+1	p.L414_splice	TTLL9_ENST00000535842.1_Splice_Site_p.L414_splice|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	414					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACACACATCTCGGTATGTAGG	0.552000													40	19					0	0	0.00148497	0	0
CACNA1A	773	broad.mit.edu	37	19	13423559	13423559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13423559G>A	ENST00000360228.5	-	12	1591	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S532F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	532					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAACATTTCGGACATAAAGAG	0.463000													30	56					0	0	0.00283554	0	0
STK11IP	114790	broad.mit.edu	37	2	220476525	220476525	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:220476525C>T	ENST00000456909.1	+	18	2394	c.2304C>T	c.(2302-2304)acC>acT	p.T768T	STK11IP_ENST00000295641.10_Silent_p.T779T			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	779					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGCACCCGTGACCATG	0.597000													5	10					0	0	0.000602214	0	0
CCDC167	154467	broad.mit.edu	37	6	37451045	37451045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:37451045G>A	ENST00000373408.3	-	4	269	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	71						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						TTCTCTTGCCGAAGAAACTTC	0.542000													24	38					0	0	0.000720815	0	0
CRYBB3	1417	broad.mit.edu	37	22	25597425	25597425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:25597425G>A	ENST00000215855.2	+	2	142	c.62G>A	c.(61-63)gGg>gAg	p.G21E	CRYBB3_ENST00000404334.1_Missense_Mutation_p.G21E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	21	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GGAGACCTTGGGGGCAGCTAC	0.607000													27	44					0	0	0.000878237	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977629	3977629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:3977629G>A	ENST00000381638.2	-	24	3624	c.3500C>T	c.(3499-3501)gCc>gTc	p.A1167V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1167							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCGAGGACCGGCCTTGAAGGT	0.498000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	29					0	0	0.000781405	0	0
LNPEP	4012	broad.mit.edu	37	5	96315504	96315504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:96315504C>T	ENST00000231368.5	+	2	1374	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.Q214*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	228					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTTTCAAGCCAAGAAAAACA	0.423000													9	9					0	0	0.00136819	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56424493C>T	ENST00000588751.1	-	5	714	c.690G>A	c.(688-690)acG>acA	p.T230T	NLRP13_ENST00000342929.3_Silent_p.T230T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	230	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGACTATCGTCTGGGCCT	0.522000													40	55					0	0	0.00195071	0	0
IL7R	3575	broad.mit.edu	37	5	35876084	35876084	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:35876084G>A	ENST00000303115.3	+	8	1005		c.e8-1		IL7R_ENST00000343305.4_Splice_Site	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor						immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTTCTGTGCAGAATTTAAATG	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						18	27					0	0	0.00074312	0	0
ACTL8	81569	broad.mit.edu	37	1	18152938	18152938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:18152938C>T	ENST00000375406.1	+	3	1241	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	342						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CTAGGAGCGTCCGTGGTGGCT	0.547000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	0.000958276	0	0
GPR52	9293	broad.mit.edu	37	1	174418005	174418005	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:174418005C>T	ENST00000367685.2	+	1	794	c.756C>T	c.(754-756)tcC>tcT	p.S252S	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	252						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TAGATTCTTCCAGAGAGACTG	0.438000													34	76					0	0	0.00058488	0	0
OBSCN	84033	broad.mit.edu	37	1	228565642	228565642	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228565642C>T	ENST00000570156.2	+	114	26453	c.26379C>T	c.(26377-26379)ctC>ctT	p.L8793L	OBSCN_ENST00000422127.1_Silent_p.L7838L|OBSCN_ENST00000366707.4_Silent_p.L5472L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7838					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCAGAGCTCCTGGAGGGCC	0.622000													10	33					0	0	0.00136819	0	0
ABAT	18	broad.mit.edu	37	16	8862081	8862081	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:8862081C>A	ENST00000396600.2	+	10	1573	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	ABAT_ENST00000569156.1_Missense_Mutation_p.S212Y|ABAT_ENST00000425191.2_Missense_Mutation_p.S212Y|ABAT_ENST00000268251.8_Missense_Mutation_p.S212Y|ABAT_ENST00000567812.1_Missense_Mutation_p.S227Y	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	212					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AGCATCCTCTCCTTCATGGGC	0.512000													43	54					9.77497e-20	3.74311e-19	0.000781405	1	0
PRMT7	54496	broad.mit.edu	37	16	68349951	68349951	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:68349951C>T	ENST00000339507.5	+	3	899	c.69C>T	c.(67-69)caC>caT	p.H23H	PRMT7_ENST00000564441.1_Intron|PRMT7_ENST00000449359.3_Silent_p.H23H|PRMT7_ENST00000441236.1_Silent_p.H23H|PRMT7_ENST00000348497.4_Silent_p.H23H			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	23					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGGATGAACACTATGATTACC	0.552000													29	59					0	0	0.001512	0	0
AE000661.37	0	broad.mit.edu	37	14	22932322	22932322	+	RNA	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:22932322G>C	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							CTGGAAATAAGACTTAGGCCC	0.423000													8	6					0	0	0.000157383	0	0
DNAH8	1769	broad.mit.edu	37	6	38843419	38843419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:38843419C>T	ENST00000359357.3	+	51	7276	c.7022C>T	c.(7021-7023)tCc>tTc	p.S2341F	DNAH8_ENST00000441566.1_Missense_Mutation_p.S2305F|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2558F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCGGTGTTTCCTGTGTCGAA	0.338000													20	37					0	0	0.00278032	0	0
THBS1	7057	broad.mit.edu	37	15	39886347	39886347	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:39886347C>T	ENST00000260356.5	+	20	3480	c.3315C>T	c.(3313-3315)ttC>ttT	p.F1105F	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1105	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAAGATTTCACCGCCTACA	0.478000													11	13					0	0	0.00185496	0	0
SCN11A	11280	broad.mit.edu	37	3	38946752	38946752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38946752C>T	ENST00000302328.3	-	11	1732	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E512K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E512K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E512K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	512					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTCCATGCTCATCAAAGTGG	0.507000													40	55					0	0	0.00170553	0	0
ENPP1	5167	broad.mit.edu	37	6	132168966	132168966	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:132168966G>A	ENST00000360971.2	+	2	311	c.291G>A	c.(289-291)ttG>ttA	p.L97L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	97					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATTTGGGTTGAAACCAAGCT	0.358000													16	6					0	0	0.000958276	0	0
KRT6A	3853	broad.mit.edu	37	12	52882250	52882250	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:52882250C>A	ENST00000330722.6	-	7	1354	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	429	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCCTCCAGCCCTTCCAGCTT	0.602000													22	47					3.7963e-18	1.45069e-17	0.00047179	1	0
HIP1	3092	broad.mit.edu	37	7	75183801	75183801	+	Missense_Mutation	SNP	G	G	A	rs141102143		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:75183801G>A	ENST00000336926.6	-	20	2014	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	HIP1_ENST00000434438.2_Missense_Mutation_p.S663F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	663					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGGAAATGGATGTGACCGT	0.512000			T	PDGFRB	CMML								24	26					0	0	0.00127121	0	0
MUC17	140453	broad.mit.edu	37	7	100678106	100678106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:100678106G>A	ENST00000306151.4	+	3	3473	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1137	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.532000													109	177					0	0	0.000781405	0	0
AGAP11	119385	broad.mit.edu	37	10	88769041	88769041	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:88769041G>A	ENST00000444431.1	+	0	3641				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCCACTGCGTGGACTGTGAGA	0.542000													60	128					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79366741	79366741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:79366741G>A	ENST00000264895.6	+	42	6171	c.5731G>A	c.(5731-5733)Gaa>Aaa	p.E1911K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E1911K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1910					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGACGTCCTGGAAAACTACAT	0.398000													33	60					0	0	0.0024448	0	0
EI24	9538	broad.mit.edu	37	11	125446179	125446179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:125446179C>T	ENST00000278903.6	+	4	459	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Nonsense_Mutation_p.Q73*	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	73					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TAGAATTTTCCAGTGTTGTGC	0.358000													15	28					0	0	0.00121646	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043939	77043939	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:77043939G>A	ENST00000339142.2	+	5	1170	c.615G>A	c.(613-615)aaG>aaA	p.K205K	C1QTNF1_ENST00000311661.4_Silent_p.K123K|C1QTNF1_ENST00000354124.3_Silent_p.K215K|C1QTNF1_ENST00000579760.1_Silent_p.K205K|C1QTNF1_ENST00000583904.1_Silent_p.K205K|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000580454.1_Silent_p.K205K|C1QTNF1_ENST00000581774.1_Silent_p.K205K|C1QTNF1_ENST00000578229.1_Silent_p.K123K|C1QTNF1_ENST00000392445.2_Silent_p.K205K|C1QTNF1_ENST00000580474.1_Silent_p.K205K	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	205	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GGAACCAGAAGGAGACCTACC	0.557000													89	49					0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018747	14018747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:14018747C>T	ENST00000279593.3	-	2	605	c.396G>A	c.(394-396)atG>atA	p.M132I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	132					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCCATTATCATAGAGGAGC	0.502000													53	85					0	0	0.000781405	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880389	84880389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:84880389G>A	ENST00000370665.3	+	6	957	c.924G>A	c.(922-924)tgG>tgA	p.W308*	DNASE2B_ENST00000370662.3_Nonsense_Mutation_p.W100*	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	308					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ATGCCAAGTGGTGTATTTCCC	0.408000													19	19					0	0	0.00121646	0	0
INF2	64423	broad.mit.edu	37	14	105178850	105178850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:105178850C>T	ENST00000392634.4	+	17	2682	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F	INF2_ENST00000330634.7_Missense_Mutation_p.S857F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	857	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GTGTCTGCCTCCGTGGCCGAG	0.647000													17	27					0	0	0.00074312	0	0
SUN1	23353	broad.mit.edu	37	7	881721	881721	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:881721G>A	ENST00000456758.2	+	6	579	c.579G>A	c.(577-579)ttG>ttA	p.L193L	SUN1_ENST00000425407.2_Silent_p.L85L|SUN1_ENST00000403868.1_Silent_p.L135L|SUN1_ENST00000405266.1_Silent_p.L135L|SUN1_ENST00000401592.1_Silent_p.L135L|SUN1_ENST00000452783.2_Silent_p.L135L|SUN1_ENST00000389574.3_Silent_p.L85L|SUN1_ENST00000457378.2_Silent_p.L156L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	135					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGTATTGGACGAGTCTT	0.572000													20	33					0	0	0.00152264	0	0
TRIM65	201292	broad.mit.edu	37	17	73887135	73887135	+	Missense_Mutation	SNP	C	C	G	rs145909647		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73887135C>G	ENST00000269383.3	-	6	1344	c.1279G>C	c.(1279-1281)Gtc>Ctc	p.V427L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	427	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTCCTGGACGCAGAGCCCC	0.692000													4	10					0	0	0.00024832	0	0
KMT2D	8085	broad.mit.edu	37	12	49425489	49425489	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:49425489C>T	ENST00000301067.7	-	39	12998	c.12999G>A	c.(12997-12999)gaG>gaA	p.E4333E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGCTGGGCCTCAGTGGGAA	0.637000													7	17					0	0	0.000157383	0	0
ASXL3	80816	broad.mit.edu	37	18	31324786	31324786	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:31324786G>A	ENST00000269197.5	+	12	4974	c.4974G>A	c.(4972-4974)agG>agA	p.R1658R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCATCCCAGGAATCTTGTAA	0.438000													28	44					0	0	0.00283554	0	0
RC3H1	149041	broad.mit.edu	37	1	173949997	173949997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:173949997G>A	ENST00000367696.2	-	6	1270	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	RC3H1_ENST00000258349.4_Missense_Mutation_p.L307F|RC3H1_ENST00000367694.2_Missense_Mutation_p.L307F			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	307					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCTCCATAAAGCAAAGAGGAC	0.443000													21	44					0	0	0.000586117	0	0
NRXN3	9369	broad.mit.edu	37	14	79432483	79432483	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:79432483C>T	ENST00000554719.1	+	9	1883	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	NRXN3_ENST00000335750.5_Silent_p.S464S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCTGCAGAGCCTCATGTTTA	0.458000													15	23					0	0	0.00074312	0	0
EDEM3	80267	broad.mit.edu	37	1	184677385	184677385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:184677385G>A	ENST00000318130.8	-	17	2205	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	EDEM3_ENST00000367512.3_Missense_Mutation_p.P604S|EDEM3_ENST00000466392.1_Intron	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	647					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCTCGTGGAGGCAGCTGC	0.458000													12	23					0	0	0.000978159	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740020	140740020	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140740020C>T	ENST00000522605.1	+	1	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.F106F(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGGATTTCGATACTGTCG	0.383000													39	71					0	0	0.00148497	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107218762	107218762	+	RNA	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:107218762T>A	ENST00000424969.2	-	0	500																											TCTCTGGAGATGGTGAATCGG	0.552000													61	115					0	0	0.000781405	0	0
SRSF3	6428	broad.mit.edu	37	6	36569554	36569554	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:36569554C>T	ENST00000373715.6	+	5	566	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	150	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CGTCCCGATCCTTCTCTAGGT	0.403000													63	71					0	0	0.000781405	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665782	37665782	+	Silent	SNP	G	G	A	rs139219621	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:37665782G>A	ENST00000399151.3	+	37	6895	c.6810G>A	c.(6808-6810)ttG>ttA	p.L2270L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2270					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCATTCTTGGACTTTCCTG	0.438000													25	61					0	0	0.00106085	0	0
OR10R2	343406	broad.mit.edu	37	1	158449901	158449901	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158449901A>G	ENST00000368152.1	+	1	234	c.234A>G	c.(232-234)ccA>ccG	p.P78P	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCCACACACCAATGTACTTCT	0.423000													56	67					0	0	0.000781405	0	0
KCNK17	89822	broad.mit.edu	37	6	39271779	39271779	+	Silent	SNP	G	G	A	rs140940240	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:39271779G>A	ENST00000453413.2	-	4	782	c.642C>T	c.(640-642)ttC>ttT	p.F214F	KCNK17_ENST00000373231.4_Silent_p.F214F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGATGAAGGCGAAGTAGAAGC	0.632000													39	48					0	0	0.00170553	0	0
PLCE1	51196	broad.mit.edu	37	10	95791423	95791423	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:95791423A>G	ENST00000260766.3	+	2	1254	c.620A>G	c.(619-621)aAc>aGc	p.N207S	PLCE1_ENST00000371380.2_Missense_Mutation_p.N207S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	207					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTATCAGAAAACTTAATTTTA	0.408000													13	18					0	0	0.00185496	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054336	21054336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:21054336G>A	ENST00000381545.3	+	15	2019	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M600I|LST3_ENST00000540229.1_Missense_Mutation_p.M600I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M600I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	600					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAACATGTATGAAGTGGTCCA	0.358000													52	80					0	0	0.000781405	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280159	18280159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:18280159G>A	ENST00000377369.2	+	8	1622	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SLC39A12_ENST00000377371.3_Missense_Mutation_p.G450E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G450E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G316E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	450					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACTGATGGGATTAATTGGA	0.333000													44	59					0	0	0.00222228	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380832	380832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:380832G>A	ENST00000329962.6	+	19	2877	c.2877G>A	c.(2875-2877)tgG>tgA	p.W959*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	959						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGTTACTGGGAGGTGAACG	0.622000													17	27					0	0	0.00188189	0	0
LGALS8	3964	broad.mit.edu	37	1	236706240	236706240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:236706240C>T	ENST00000526589.1	+	11	1095	c.575C>T	c.(574-576)tCt>tTt	p.S192F	LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.S133F|LGALS8_ENST00000450372.2_Missense_Mutation_p.S192F|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.S192F|LGALS8_ENST00000525042.1_Missense_Mutation_p.S133F|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.S192F			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	183	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAGACATTTCTAAAATCGCA	0.413000													35	80					0	0	0.00128727	0	0
PLAGL1	5325	broad.mit.edu	37	6	144269140	144269140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:144269140G>A	ENST00000360537.2	-	4	2047	c.134C>T	c.(133-135)tCc>tTc	p.S45F	PLAGL1_ENST00000354765.2_Missense_Mutation_p.S45F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S45F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S45F|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S45F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.S45F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.S45F|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000392307.1_Intron			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	45					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TTTATATCTGGAAACAAAGGC	0.478000													115	51					0	0	0.000781405	0	0
PLXNC1	10154	broad.mit.edu	37	12	94699023	94699023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:94699023G>A	ENST00000258526.4	+	31	4918	c.4669G>A	c.(4669-4671)Gtc>Atc	p.V1557I	PLXNC1_ENST00000545312.1_Missense_Mutation_p.V296I|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V604I	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1557					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCATGTAAAAGTCTTATTTGA	0.388000													4	4					0	0	0.000602214	0	0
MECOM	2122	broad.mit.edu	37	3	168806893	168806893	+	Silent	SNP	C	C	T	rs66665001		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:168806893C>T	ENST00000464456.1	-	14	4089	c.2889G>A	c.(2887-2889)agG>agA	p.R963R	MECOM_ENST00000472280.1_Silent_p.R973R|MECOM_ENST00000468789.1_Silent_p.R972R|MECOM_ENST00000460814.1_Silent_p.R963R|MECOM_ENST00000433243.2_Silent_p.R973R|MECOM_ENST00000392736.3_Silent_p.R972R|MECOM_ENST00000264674.3_Silent_p.R1037R|MECOM_ENST00000494292.1_Silent_p.R1151R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	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						CTTCCATTTTCCTCATTTTGA	0.373000													17	28					0	0	0.00152264	0	0
CCDC80	151887	broad.mit.edu	37	3	112358629	112358629	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:112358629A>T	ENST00000206423.3	-	2	1077	c.124T>A	c.(124-126)Tct>Act	p.S42T	CCDC80_ENST00000439685.2_Missense_Mutation_p.S42T|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	42										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGTCCGGAGAAACCAAAGGC	0.557000													23	40					0	0	0.00229938	0	0
KLK4	9622	broad.mit.edu	37	19	51412575	51412575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51412575C>T	ENST00000324041.1	-	2	156	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	KLK4_ENST00000431178.2_Missense_Mutation_p.E4K	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	53	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAACAATTCGTTTTCCATG	0.617000													84	125					0	0	0.000781405	0	0
FAF2	23197	broad.mit.edu	37	5	175919263	175919263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175919263C>T	ENST00000261942.6	+	5	466	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	138					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GACATTGTTTCATTTATGCAC	0.488000													30	41					0	0	0.00178596	0	0
STK39	27347	broad.mit.edu	37	2	168931712	168931712	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168931712G>A	ENST00000355999.4	-	11	1824	c.1119C>T	c.(1117-1119)caC>caT	p.H373H	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	373					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTTTATGAAGGTGACCACTTG	0.463000													55	56					0	0	0.000781405	0	0
CACNA1D	776	broad.mit.edu	37	3	53736685	53736685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:53736685G>A	ENST00000288139.3	+	9	1356	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R413K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R413K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	413					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAAAGGAAAGAGAGAAGGCA	0.522000													16	24					0	0	0.000958276	0	0
CRISP2	7180	broad.mit.edu	37	6	49667538	49667538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:49667538C>T	ENST00000339139.4	-	6	486	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	84						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			tcctctgGATCACTATGTTGT	0.333000													10	21					0	0	0.000442599	0	0
FASLG	356	broad.mit.edu	37	1	172634869	172634869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:172634869G>A	ENST00000367721.2	+	4	743	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	187					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAATGAAACTGGGCTGTACTT	0.468000													27	58					0	0	0.00209593	0	0
AGBL1	123624	broad.mit.edu	37	15	86807958	86807958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:86807958G>A	ENST00000441037.2	+	10	1513	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	AGBL1_ENST00000421325.2_Missense_Mutation_p.R473K|AGBL1_ENST00000389298.3_Missense_Mutation_p.R204K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	473					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCCAAAGCCAGAAGAACCAGC	0.478000													48	50					0	0	0.000781405	0	0
FAM118A	55007	broad.mit.edu	37	22	45719294	45719294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:45719294C>T	ENST00000216214.3	+	4	1120	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	FAM118A_ENST00000441876.2_Missense_Mutation_p.R96W|FAM118A_ENST00000405673.1_Missense_Mutation_p.R96W	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	96						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGATCTGATCCGGAAGATGTC	0.547000													19	35					0	0	0.00278032	0	0
ABCA1	19	broad.mit.edu	37	9	107581899	107581899	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:107581899C>A	ENST00000374736.3	-	22	3603	c.3209G>T	c.(3208-3210)gGa>gTa	p.G1070V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1070	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCCATATTCCCCTGCGGGA	0.517000													45	53					1.21353e-23	4.65666e-23	0.000781405	1	0
DLG5	9231	broad.mit.edu	37	10	79581859	79581859	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:79581859C>T	ENST00000372391.2	-	15	2388	c.2382_splice	c.e15-1	p.V795_splice	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	795	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGAGGGAATACCTAGGCAGGG	0.507000													25	40					0	0	0.000586117	0	0
RAD23A	5886	broad.mit.edu	37	19	13059912	13059912	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13059912C>T	ENST00000586534.1	+	6	679	c.618C>T	c.(616-618)ccC>ccT	p.P206P	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Silent_p.P206P|RAD23A_ENST00000592268.1_Silent_p.P206P|RAD23A_ENST00000541222.1_Silent_p.P41P			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	206					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CTGGGAGCCCCGAGCCGGAAC	0.627000								Nucleotide excision repair (NER)					4	7					0	0	0.000602214	0	0
HARS	3035	broad.mit.edu	37	5	140056669	140056669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140056669C>T	ENST00000504366.1	-	8	2468	c.649G>A	c.(649-651)Gat>Aat	p.D217N	HARS_ENST00000415192.2_Missense_Mutation_p.D212N|HARS_ENST00000431330.2_Missense_Mutation_p.D172N|HARS_ENST00000438307.2_Missense_Mutation_p.D246N|HARS_ENST00000448240.1_Missense_Mutation_p.D91N|HARS_ENST00000504156.1_Missense_Mutation_p.D286N|HARS_ENST00000307633.3_Missense_Mutation_p.D226N|HARS_ENST00000457527.2_Missense_Mutation_p.D266N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	286					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGTTTAGGATCCTGGAGCAGC	0.507000													85	142					0	0	0.000781405	0	0
CCDC73	493860	broad.mit.edu	37	11	32635300	32635300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:32635300C>T	ENST00000335185.5	-	16	2607	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	855										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAACATTTTTCCTGAAACAAT	0.348000													38	69					0	0	0.00128727	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177475	89177475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:89177475C>T	ENST00000561129.2	+	1	521	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.H131Y			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H131I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAAAGATGCCCATGCCACCCA	0.562000													19	5					0	0	0.001512	0	0
CCDC40	55036	broad.mit.edu	37	17	78023898	78023898	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78023898G>A	ENST00000397545.4	+	7	1002	c.975G>A	c.(973-975)caG>caA	p.Q325Q	CCDC40_ENST00000269318.5_Silent_p.Q325Q|CCDC40_ENST00000374877.3_Silent_p.Q325Q|CCDC40_ENST00000374876.4_Silent_p.Q325Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	325					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGCGGCAGGAGCTGGGGG	0.622000													44	14					0	0	0.000781405	0	0
APOL2	23780	broad.mit.edu	37	22	36624020	36624020	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:36624020G>A	ENST00000249066.6	-	6	920	c.444C>T	c.(442-444)ctC>ctT	p.L148L	APOL2_ENST00000358502.5_Silent_p.L148L|APOL2_ENST00000451256.2_Silent_p.L260L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	148					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAGTGTCCAAGAGCACAAAAC	0.562000													11	19					0	0	0.00136819	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885952	45885952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45885952C>T	ENST00000418234.2	-	12	2359	c.2281G>A	c.(2281-2283)Ggg>Agg	p.G761R	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G761R	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	761	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACACTGCCCCGCTGTTCATC	0.672000													8	15					0	0	0.000442599	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434365	40434365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:40434365C>T	ENST00000372809.5	+	13	1659	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	MFSD2A_ENST00000420632.2_Missense_Mutation_p.P337S|MFSD2A_ENST00000372811.5_Missense_Mutation_p.P493S|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	506					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAAAATGTACCCCATTGATGA	0.577000													36	44					0	0	0.00148497	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467191	44467191	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:44467191G>A	ENST00000372310.3	-	9	1236	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	SLC6A9_ENST00000372307.3_Silent_p.S292S|SLC6A9_ENST00000475075.2_Silent_p.S246S|SLC6A9_ENST00000537678.1_Silent_p.S292S|SLC6A9_ENST00000360584.2_Silent_p.S430S|SLC6A9_ENST00000357730.2_Silent_p.S376S|SLC6A9_ENST00000372306.3_Silent_p.S357S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	430						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTGCCACACGGGACACATCCA	0.592000													25	50					0	0	0.000720815	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874762	144874762	+	Missense_Mutation	SNP	C	C	T	rs144570156		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:144874762C>T	ENST00000369359.4	-	33	5292	c.5254G>A	c.(5254-5256)Gaa>Aaa	p.E1752K	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1616K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1752K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1616K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1572K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1616					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCCAGTTCATCAGACAGG	0.562000			T	PDGFRB	MPD								52	280					0	0	0.000781405	0	0
JUP	3728	broad.mit.edu	37	17	39913718	39913718	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39913718G>A	ENST00000393931.3	-	12	2113	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	JUP_ENST00000393930.1_Silent_p.S665S|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.S665S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	665					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCTCCACGGACACGCGCT	0.582000													29	72					0	0	0.0024448	0	0
TRIP13	9319	broad.mit.edu	37	5	896822	896822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:896822C>T	ENST00000166345.3	+	3	657	c.301C>T	c.(301-303)Cag>Tag	p.Q101*		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	101					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TCACATTTTCCAGCTGAATGA	0.448000													31	42					0	0	0.00058488	0	0
POGZ	23126	broad.mit.edu	37	1	151378521	151378521	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:151378521C>A	ENST00000271715.2	-	19	3304	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L	POGZ_ENST00000540984.1_Missense_Mutation_p.R359L|POGZ_ENST00000361398.3_Missense_Mutation_p.R944L|POGZ_ENST00000531094.1_Missense_Mutation_p.R935L|POGZ_ENST00000491586.1_Missense_Mutation_p.R953L|POGZ_ENST00000409503.1_Missense_Mutation_p.R988L|POGZ_ENST00000368863.2_Missense_Mutation_p.R902L|POGZ_ENST00000392723.1_Missense_Mutation_p.R944L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	997					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGGATTTCGGAAGTGTTC	0.507000													21	45					3.51602e-12	1.33987e-11	0.00121646	1	0
MERTK	10461	broad.mit.edu	37	2	112722775	112722775	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:112722775G>A	ENST00000295408.4	+	5	1022	c.765G>A	c.(763-765)acG>acA	p.T255T	MERTK_ENST00000409780.1_Silent_p.T79T|MERTK_ENST00000421804.2_Silent_p.T255T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGGCCTGACGGAGATGGCGG	0.483000													26	50					0	0	0.0024448	0	0
CTSG	1511	broad.mit.edu	37	14	25043014	25043014	+	Silent	SNP	C	C	T	rs139142097		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:25043014C>T	ENST00000216336.2	-	5	633	c.597G>A	c.(595-597)ggG>ggA	p.G199G		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	199	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CTCCGGAATCCCCCTGTAGGT	0.617000													24	44					0	0	0.00047179	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367173	105367173	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:105367173C>T	ENST00000297581.2	+	3	1147	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	366					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCAACTGTATCCCAAAACCAA	0.348000													21	30					0	0	0.00152264	0	0
NUP210L	91181	broad.mit.edu	37	1	154076511	154076511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:154076511C>T	ENST00000368559.3	-	13	1867	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	NUP210L_ENST00000271854.3_Missense_Mutation_p.G599E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	599						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTAAAGACTCCTTGTTTATC	0.353000													32	110					0	0	0.0024448	0	0
AQP8	343	broad.mit.edu	37	16	25228638	25228638	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:25228638C>T	ENST00000219660.5	+	2	257	c.132C>T	c.(130-132)ggC>ggT	p.G44G	AQP8_ENST00000566125.1_Silent_p.G38G	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		AACTGCTGGGCTCTGCTCTCT	0.622000													60	88					0	0	0.000781405	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292617	4292617	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:4292617G>A	ENST00000301272.2	-	5	873	c.828C>T	c.(826-828)ttC>ttT	p.F276F	TMIGD2_ENST00000600349.1_Silent_p.F104F|TMIGD2_ENST00000595645.1_Silent_p.F272F|TMIGD2_ENST00000600114.1_Silent_p.F156F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	276	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTTTGGGGAACCCTTTTG	0.637000													31	76					0	0	0.000692331	0	0
FNTA	2339	broad.mit.edu	37	8	42940407	42940407	+	Silent	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:42940407A>T	ENST00000529687.1	+	9	1557	c.669A>T	c.(667-669)ccA>ccT	p.P223P	FNTA_ENST00000342116.4_Silent_p.P307P|FNTA_ENST00000302279.3_Silent_p.P374P			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	374					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGACTCACCAACAAATGTAC	0.393000													12	31					0	0	0.000978159	0	0
PHF19	26147	broad.mit.edu	37	9	123624282	123624282	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123624282A>C	ENST00000373896.3	-	12	1384	c.1130_splice	c.e12-1	p.L378_splice	PHF19_ENST00000419155.1_Splice_Site_p.L169_splice|PHF19_ENST00000487555.1_Intron	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGGCAACAAACTGTGGAGA	0.542000													29	40					0	0	0.00178596	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057335	102057335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:102057335G>A	ENST00000549145.1	+	21	2417	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R	MYBPC1_ENST00000392934.3_Missense_Mutation_p.G747R|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G760R|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G746R|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G760R|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G785R|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G661R|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G785R|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G760R|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G760R|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G748R|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G760R|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G741R|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G734R|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G760R			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	760	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTGCTTTGAAGGAAGTAAGTA	0.463000													12	11					0	0	0.00136819	0	0
ABCA3	21	broad.mit.edu	37	16	2376429	2376429	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:2376429C>T	ENST00000301732.5	-	4	739	c.39G>A	c.(37-39)aaG>aaA	p.K13K	ABCA3_ENST00000382381.3_Silent_p.K13K|ABCA3_ENST00000567910.1_Silent_p.K13K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	13					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGGTGTAGTTCTTCCAGAGGA	0.612000													7	9					0	0	0.000157383	0	0
INCENP	3619	broad.mit.edu	37	11	61908274	61908274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61908274C>T	ENST00000394818.3	+	9	1644	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	INCENP_ENST00000278849.4_Missense_Mutation_p.S481L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	481					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCTTCCTCACCCTGCCCA	0.667000													15	17					0	0	0.00074312	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974280	174974280	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:174974280C>T	ENST00000454872.1	+	4	1028	c.900C>T	c.(898-900)atC>atT	p.I300I	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	300					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAAATCAGATCGCACTCCTGA	0.353000													26	58					0	0	0.00127121	0	0
EXPH5	23086	broad.mit.edu	37	11	108409798	108409798	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108409798C>T	ENST00000265843.4	-	3	506	c.396G>A	c.(394-396)agG>agA	p.R132R	EXPH5_ENST00000525344.1_Silent_p.R125R|EXPH5_ENST00000428840.1_Silent_p.R56R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	132					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGATTTCCTGAATGAGA	0.423000													48	90					0	0	0.000781405	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501777	31501777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31501777C>T	ENST00000330498.3	+	14	1959	c.1940C>T	c.(1939-1941)cCg>cTg	p.P647L	SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	647					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCGAGGACCCGAGCTGGGCC	0.627000													12	22					0	0	0.00244969	0	0
ATP13A3	79572	broad.mit.edu	37	3	194134539	194134539	+	Silent	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:194134539T>A	ENST00000439040.1	-	32	4223	c.3432A>T	c.(3430-3432)gtA>gtT	p.V1144V	ATP13A3_ENST00000256031.4_Silent_p.V1144V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1144					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAGCATAGTTACACGCCACT	0.348000													95	126					0	0	0.000781405	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315112	22315112	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:22315112G>A	ENST00000390434.3	+	0	275																											GTTGCAGGAGGAACCAGAGCC	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	0.000442599	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620119	112620119	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:112620119T>C	ENST00000341068.3	-	10	1881	c.1109A>G	c.(1108-1110)aAc>aGc	p.N370S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCTTGAAATGTTGAACCTTTG	0.423000													3	20					0	0	0.00198382	0	0
FTH1	2495	broad.mit.edu	37	11	61732864	61732864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61732864G>A	ENST00000273550.7	-	2	472	c.238C>T	c.(238-240)Cga>Tga	p.R80*	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Nonsense_Mutation_p.R50*|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Nonsense_Mutation_p.R10*	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	80	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGGAAGATTCGGCCACCTCGT	0.438000													118	145					0	0	0.000781405	0	0
PCYT2	5833	broad.mit.edu	37	17	79863007	79863007	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:79863007G>A	ENST00000538936.2	-	12	1101	c.993C>T	c.(991-993)ttC>ttT	p.F331F	PCYT2_ENST00000571105.1_Silent_p.F309F|PCYT2_ENST00000570391.1_Silent_p.F299F|PCYT2_ENST00000538721.2_Silent_p.F349F|PCYT2_ENST00000570388.1_Silent_p.F253F|PCYT2_ENST00000331285.3_Silent_p.F253F	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	331	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAATCTGACGGAAGATGCCCC	0.622000													13	13					0	0	0.00074312	0	0
YPEL1	29799	broad.mit.edu	37	22	22057768	22057768	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:22057768C>T	ENST00000339468.3	-	4	545		c.e4-1			NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CACGTTCACCCTGCGGGGACA	0.701000													15	30					0	0	0.000566183	0	0
SLC25A14	9016	broad.mit.edu	37	X	129506907	129506907	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:129506907A>T	ENST00000218197.5	+	10	1188	c.961A>T	c.(961-963)Aag>Tag	p.K321*	SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.K318*|SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.K349*	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	321					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CGAGCAGCTAAAGAGGCTTCA	0.403000													114	36					0	0	0.000781405	0	0
VPS13D	55187	broad.mit.edu	37	1	12409243	12409243	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12409243C>T	ENST00000358136.3	+	46	9373	c.9243C>T	c.(9241-9243)atC>atT	p.I3081I	VPS13D_ENST00000356315.4_Silent_p.I3056I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3080					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCTGCTATCATGCCAGGGG	0.507000													31	66					0	0	0.000692331	0	0
IL17REL	400935	broad.mit.edu	37	22	50436709	50436709	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:50436709T>G	ENST00000389983.2	-	10	895	c.631A>C	c.(631-633)Acg>Ccg	p.T211P	IL17REL_ENST00000341280.5_Missense_Mutation_p.T211P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	211										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAGTAGACCGTGTCCCACAGC	0.682000													12	19					0	0	0.00136819	0	0
DNTT	1791	broad.mit.edu	37	10	98092170	98092170	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:98092170G>A	ENST00000419175.1	+	9	1346	c.1176G>A	c.(1174-1176)agG>agA	p.R392R	DNTT_ENST00000371174.2_Silent_p.R392R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	392	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTAGCAGGAAGGTTGATG	0.423000													31	56					0	0	0.00178596	0	0
CRELD2	79174	broad.mit.edu	37	22	50313429	50313429	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:50313429C>T	ENST00000404488.3	+	3	399	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CRELD2_ENST00000328268.4_Silent_p.F88F|CRELD2_ENST00000407217.3_Silent_p.F88F|CRELD2_ENST00000403427.3_Silent_p.F88F	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	88						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGACTTCGAATGCAATC	0.572000													10	26					0	0	0.00136819	0	0
RAB19	401409	broad.mit.edu	37	7	140125885	140125885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:140125885C>T	ENST00000275874.5	+	5	928	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	RAB19_ENST00000537763.1_Missense_Mutation_p.P197S|RAB19_ENST00000356407.3_Missense_Mutation_p.P197S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAACGGCCTCCCCCTGGACTC	0.557000													22	40					0	0	0.000586117	0	0
CSMD3	114788	broad.mit.edu	37	8	113697928	113697928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:113697928C>T	ENST00000297405.5	-	15	2433	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G730E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G690E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G626E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	730	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGAACTGTTCCCATTGGTGC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	52					0	0	0.000878237	0	0
SUGT1	10910	broad.mit.edu	37	13	53240969	53240969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:53240969C>T	ENST00000535397.1	+	11	747	c.374C>T	c.(373-375)cCt>cTt	p.P125L	SUGT1_ENST00000310528.7_Missense_Mutation_p.P181L|SUGT1_ENST00000343788.6_Missense_Mutation_p.P213L			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	213					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTTAAACTTCCTTCTGGAGAG	0.323000													30	59					0	0	0.00209593	0	0
UNC5B	219699	broad.mit.edu	37	10	73056340	73056340	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:73056340C>T	ENST00000335350.6	+	15	2747	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	UNC5B_ENST00000373192.4_Silent_p.I766I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	777					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCAGGAGATCCCCTTCTATC	0.607000													8	12					0	0	0.000157383	0	0
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:146351187C>T	ENST00000392299.2	+	2	1004	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCAGCTCTTCGACATCCCCC	0.542000													24	15					0	0	0.000586117	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560526	32560526	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:32560526A>G	ENST00000345122.3	+	2	966	c.651A>G	c.(649-651)tcA>tcG	p.S217S	ARHGAP5_ENST00000556611.1_Silent_p.S217S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S217S|ARHGAP5_ENST00000432921.1_Silent_p.S217S|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	217					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATTTGCTTCAAATAAAAAGA	0.333000													39	69					0	0	0.00170553	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922496	140922496	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:140922496G>A	ENST00000389328.4	-	20	3167	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	TRAPPC9_ENST00000438773.2_Silent_p.S953S|TRAPPC9_ENST00000389327.3_Silent_p.S944S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	953					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTCCCCAGGGGACTCCGGGA	0.537000													20	34					0	0	0.00188189	0	0
ZNF750	79755	broad.mit.edu	37	17	80790094	80790094	+	Silent	SNP	G	G	T	rs34808874	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:80790094G>T	ENST00000269394.3	-	2	1070	c.237C>A	c.(235-237)ccC>ccA	p.P79P	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	79						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGTGGCATCGGGCTGGTTGG	0.507000													7	99					0.00198382	0.0074215	0.00198382	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113661217	113661217	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:113661217G>A	ENST00000393544.2	+	0	1265																											GGGCTTCTCCGAATGGCTGGC	0.522000													11	18					0	0	0.000978159	0	0
GBA3	57733	broad.mit.edu	37	4	22820518	22820518	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:22820518G>A	ENST00000511446.1	+	0	1385				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCATCCGAAACAATGGC	0.483000													10	2					0	0	0.000978159	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578282	14578282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:14578282C>T	ENST00000544627.1	+	2	1777	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	ATF7IP_ENST00000536444.1_Missense_Mutation_p.P478L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P478L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P478L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P478L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	478	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTGGTTCACCATCTAAACAA	0.378000													22	36					0	0	0.000720815	0	0
FIGF	2277	broad.mit.edu	37	X	15364352	15364352	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:15364352C>A	ENST00000297904.3	-	7	1397	c.968G>T	c.(967-969)aGa>aTa	p.R323I	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	323					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGCACATGGTCTGGTATGAAA	0.458000													35	7					3.2961e-07	1.25088e-06	0.000953801	1	0
CD3D	915	broad.mit.edu	37	11	118211228	118211228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118211228C>T	ENST00000300692.4	-	2	272	c.136G>A	c.(136-138)Gga>Aga	p.G46R	CD3D_ENST00000392884.2_Missense_Mutation_p.G46R|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	46					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCCACCGTTCCCTCTACCCAT	0.448000													15	33					0	0	0.000422831	0	0
OR1B1	347169	broad.mit.edu	37	9	125391722	125391722	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125391722G>A	ENST00000304833.3	-	1	130	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGAACAGGAAGAAGAGGA	0.498000													16	32					0	0	0.000422831	0	0
ADAM2	2515	broad.mit.edu	37	8	39645728	39645728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39645728C>T	ENST00000265708.4	-	9	788	c.685G>A	c.(685-687)Gag>Aag	p.E229K	ADAM2_ENST00000347580.4_Missense_Mutation_p.E210K|ADAM2_ENST00000521880.1_Missense_Mutation_p.E229K|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	229	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATCCAAAGCTCCAATGAAGAC	0.274000													9	38					0	0	0.000673444	0	0
UBR1	197131	broad.mit.edu	37	15	43237664	43237664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43237664C>T	ENST00000290650.4	-	47	5191	c.5113G>A	c.(5113-5115)Ggc>Agc	p.G1705S	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1705					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGGGGTTGCCCCTCCTTTAG	0.408000													14	26					0	0	0.000308642	0	0
NCAN	1463	broad.mit.edu	37	19	19329750	19329750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19329750G>A	ENST00000252575.5	+	3	143	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	34					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGATGCCAGCGAAAGGGGGCT	0.607000													14	21					0	0	0.000422831	0	0
CCDC180	100499483	broad.mit.edu	37	9	100139087	100139087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:100139087G>A	ENST00000375202.2	+	51	6369	c.5017G>A	c.(5017-5019)Gat>Aat	p.D1673N	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.D1618N|CCDC180_ENST00000529487.1_Missense_Mutation_p.D1673N					coiled-coil domain containing 180																		GAGGATCCAGGATGACTGTAC	0.532000													26	44					0	0	0.000878237	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243605	47243605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:47243605G>A	ENST00000300404.2	+	9	1323	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E336K|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E362K	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	422					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGAGAAAACAGAACTGGACGT	0.483000													37	40					0	0	0.0025221	0	0
AMPD1	270	broad.mit.edu	37	1	115222253	115222253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:115222253C>T	ENST00000369538.3	-	6	978	c.931G>A	c.(931-933)Gag>Aag	p.E311K	AMPD1_ENST00000353928.6_Missense_Mutation_p.E282K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E315K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	282					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCCTTTAACTCGTCCATCTCG	0.428000													75	95					0	0	0.000781405	0	0
ANK2	287	broad.mit.edu	37	4	114277126	114277126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:114277126C>T	ENST00000357077.4	+	38	7405	c.7352C>T	c.(7351-7353)aCc>aTc	p.T2451I	ANK2_ENST00000264366.6_Missense_Mutation_p.T2418I|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2418					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACACAAAACCCCTGATTCT	0.502000													18	22					0	0	0.00074312	0	0
OR6C76	390326	broad.mit.edu	37	12	55820217	55820217	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:55820217C>T	ENST00000328314.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTATTTCTTCCTCAGGAATT	0.393000													27	53					0	0	0.00127121	0	0
MMEL1	79258	broad.mit.edu	37	1	2524135	2524135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:2524135C>T	ENST00000288709.6	-	21	2239	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E676K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E519K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	676					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCAATGTTTTCCCCAAGGGTG	0.687000													13	17					0	0	0.00244969	0	0
DNAH3	55567	broad.mit.edu	37	16	20952783	20952783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:20952783G>A	ENST00000261383.3	-	59	11593	c.11594C>T	c.(11593-11595)cCc>cTc	p.P3865L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3865					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAGACCACGGGGTACAACTT	0.483000													104	105					0	0	0.000781405	0	0
ZNF169	169841	broad.mit.edu	37	9	97062188	97062188	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:97062188C>T	ENST00000395395.2	+	5	438	c.348C>T	c.(346-348)ccC>ccT	p.P116P	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GTGGCCATCCCACACAGATCT	0.517000													32	39					0	0	0.00283554	0	0
GABRB3	2562	broad.mit.edu	37	15	26793166	26793166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:26793166C>T	ENST00000541819.2	-	10	1466	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	GABRB3_ENST00000545868.1_Missense_Mutation_p.G314E|GABRB3_ENST00000400188.3_Missense_Mutation_p.G328E|GABRB3_ENST00000311550.5_Missense_Mutation_p.G399E|GABRB3_ENST00000299267.4_Missense_Mutation_p.G399E			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTACTGGATTCCTGAGTTGTC	0.502000													27	48					0	0	0.000720815	0	0
OR52I2	143502	broad.mit.edu	37	11	4608408	4608408	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4608408C>T	ENST00000312614.4	+	1	388	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGCTCAATCAGCTTTAGTG	0.502000													21	39					0	0	0.00188189	0	0
ZNF697	90874	broad.mit.edu	37	1	120166578	120166578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:120166578C>T	ENST00000421812.2	-	3	507	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	130	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCTTCCTCCTCCAGCCGGTTC	0.652000													9	5					0	0	0.000274275	0	0
OR2M3	127062	broad.mit.edu	37	1	248366844	248366844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248366844G>A	ENST00000456743.1	+	1	513	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGAATTATTGATGTTGTAGC	0.463000													25	68					0	0	0.00047179	0	0
HMHA1	23526	broad.mit.edu	37	19	1068598	1068598	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:1068598G>A	ENST00000313093.2	+	2	507	c.276G>A	c.(274-276)cgG>cgA	p.R92R	HMHA1_ENST00000586866.1_Silent_p.R96R|HMHA1_ENST00000590214.1_Silent_p.R119R|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Silent_p.R108R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	92					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCACCGGAGCCCACTGA	0.746000													9	12					0	0	0.000673444	0	0
HFE2	148738	broad.mit.edu	37	1	145415781	145415781	+	Silent	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:145415781T>C	ENST00000336751.5	+	3	838	c.600T>C	c.(598-600)ttT>ttC	p.F200F	HFE2_ENST00000357836.5_Silent_p.F87F|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	200					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTTCCTCTTTGTCCAAGCCA	0.582000													29	92					0	0	0.00127121	0	0
MAGI3	260425	broad.mit.edu	37	1	114184796	114184796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:114184796G>A	ENST00000369615.1	+	10	1686	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R	MAGI3_ENST00000307546.9_Missense_Mutation_p.G542R|MAGI3_ENST00000369617.4_Missense_Mutation_p.G567R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G542R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	567					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCAGAATGGAAAATCGGG	0.498000													48	68					0	0	0.000781405	0	0
C3orf62	375341	broad.mit.edu	37	3	49314045	49314045	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:49314045C>T	ENST00000343010.3	-	1	1297	c.261G>A	c.(259-261)gaG>gaA	p.E87E		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	87								p.E87E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTTCTCATTCTCAGGAGCAC	0.532000													38	43					0	0	0.000953801	0	0
UBE2S	27338	broad.mit.edu	37	19	55913070	55913070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55913070G>A	ENST00000264552.9	-	4	590	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	135					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AAGAGCAGGCGGCCCGCCTCC	0.677000													14	28					0	0	0.00121646	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152181	151152181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:151152181C>T	ENST00000367328.1	+	16	2246	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P645L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	645					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGATGACTCCCTTTGGGTCA	0.458000													6	2					0	0	0.000157383	0	0
MYO5B	4645	broad.mit.edu	37	18	47488689	47488689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:47488689C>T	ENST00000285039.7	-	12	1791	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	498	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAATGAGGTCGATACAAGGT	0.403000													32	49					0	0	0.00058488	0	0
SYT1	6857	broad.mit.edu	37	12	79611408	79611408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:79611408G>A	ENST00000261205.4	+	4	766	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SYT1_ENST00000552744.1_Missense_Mutation_p.E37K|SYT1_ENST00000457153.2_Missense_Mutation_p.E37K|SYT1_ENST00000393240.3_Missense_Mutation_p.E37K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	37					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGAAGGAAAGGAAGATGCATT	0.468000													8	34					0	0	0.000442599	0	0
FBXO47	494188	broad.mit.edu	37	17	37118295	37118295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:37118295C>T	ENST00000378079.2	-	3	386	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	63	F-box.									NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGCTGATATCCTTCACTACC	0.343000													25	90					0	0	0.00106085	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:138373853G>A	ENST00000409968.1	+	18	3710	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000													40	62					0	0	0.00222228	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919714	142919714	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142919714G>A	ENST00000408947.3	+	1	585	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	181					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCAACTCCACGGAGAAGAAGT	0.458000													35	49					0	0	0.000953801	0	0
KALRN	8997	broad.mit.edu	37	3	124153173	124153173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:124153173C>T	ENST00000360013.3	+	17	2970	c.2843C>T	c.(2842-2844)tCc>tTc	p.S948F	KALRN_ENST00000460856.1_Intron|KALRN_ENST00000240874.3_Missense_Mutation_p.S948F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	948					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGCCACTTCCTTGCAGAAG	0.607000													17	16					0	0	0.00188189	0	0
OR11H6	122748	broad.mit.edu	37	14	20692397	20692397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:20692397C>T	ENST00000315519.2	+	1	607	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTATCCAGTCCCTATTGTTCT	0.502000													14	8					0	0	0.00244969	0	0
OLFML2B	25903	broad.mit.edu	37	1	161993142	161993142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:161993142C>T	ENST00000294794.3	-	1	502	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.G27R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	27										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCGCTTGTCCCTGTGAGGACA	0.592000													40	29					0	0	0.00222228	0	0
FSHR	2492	broad.mit.edu	37	2	49295372	49295372	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:49295372C>T	ENST00000406846.2	-	2	329	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FSHR_ENST00000346173.3_Silent_p.G70G|FSHR_ENST00000304421.4_Silent_p.G70G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	70					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCCAGGTCCCCAAATCCTG	0.443000									Gonadal Dysgenesis, 46 XX				15	29					0	0	0.000566183	0	0
TRPV4	59341	broad.mit.edu	37	12	110232206	110232206	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:110232206G>A	ENST00000418703.2	-	7	1513	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	TRPV4_ENST00000537083.1_Silent_p.I413I|TRPV4_ENST00000346520.2_Silent_p.I413I|TRPV4_ENST00000544971.1_Silent_p.I366I|TRPV4_ENST00000261740.2_Silent_p.I473I|TRPV4_ENST00000392719.2_Silent_p.I426I|TRPV4_ENST00000541794.1_Silent_p.I426I|TRPV4_ENST00000536838.1_Silent_p.I439I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	473					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACCACGTTGATGTAGAAGG	0.617000													26	59					0	0	0.00106085	0	0
C9orf131	138724	broad.mit.edu	37	9	35044877	35044877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:35044877G>A	ENST00000312292.5	+	2	2298	c.2251G>A	c.(2251-2253)Gga>Aga	p.G751R	C9orf131_ENST00000354479.5_Missense_Mutation_p.G678R|C9orf131_ENST00000421362.2_Missense_Mutation_p.G703R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	751										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTACCCAAGGGAGTAACGTG	0.607000													23	37					0	0	0.00278032	0	0
THSD4	79875	broad.mit.edu	37	15	72030236	72030236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:72030236C>T	ENST00000355327.3	+	11	1930	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.P599L|THSD4_ENST00000357769.4_Missense_Mutation_p.P239L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	599						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGATTTTCTCCCCATCGACCG	0.592000													24	44					0	0	0.000586117	0	0
CRISP1	167	broad.mit.edu	37	6	49806193	49806193	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:49806193G>A	ENST00000335847.4	-	7	680	c.579C>T	c.(577-579)gtC>gtT	p.V193V	CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000505118.1_Silent_p.V193V|CRISP1_ENST00000355791.2_Silent_p.V193V|CRISP1_ENST00000536021.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	193					fusion of sperm to egg plasma membrane	extracellular space		p.V193V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTTCACATGGGACGCCTGTCT	0.363000													23	59					0	0	0.000878237	0	0
TARBP1	6894	broad.mit.edu	37	1	234565323	234565323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:234565323G>A	ENST00000040877.1	-	16	2709	c.2710C>T	c.(2710-2712)Cac>Tac	p.H904Y		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	904					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATAAGGGTGTGATATTTTTTC	0.433000													38	86					0	0	0.00195071	0	0
DRGX	644168	broad.mit.edu	37	10	50599893	50599893	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:50599893G>A	ENST00000434016.1	-	1	14	c.15C>T	c.(13-15)agC>agT	p.S5S	DRGX_ENST00000374139.2_Intron	NM_001276451.1	NP_001263380.1	C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	5					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTGGTCACAGCTCATCAGCA	0.398000													4	8					0	0	0.00024832	0	0
CCDC150	284992	broad.mit.edu	37	2	197590773	197590773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:197590773C>T	ENST00000389175.4	+	22	2641	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	CCDC150_ENST00000272831.7_Nonsense_Mutation_p.Q483*|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Nonsense_Mutation_p.Q323*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	836										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGCAGTTTCAAACCGAGAG	0.428000													9	13					0	0	0.000274275	0	0
DSG2	1829	broad.mit.edu	37	18	29122532	29122532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:29122532G>A	ENST00000261590.8	+	14	2260	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	684					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGTAGGAAGAAATGGAGTA	0.512000													24	26					0	0	0.00278032	0	0
FXR1	8087	broad.mit.edu	37	3	180685959	180685959	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:180685959G>T	ENST00000357559.4	+	14	1703	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	FXR1_ENST00000468861.1_Missense_Mutation_p.R355I|FXR1_ENST00000445140.2_Missense_Mutation_p.R440I|FXR1_ENST00000305586.7_Missense_Mutation_p.R355I|FXR1_ENST00000480918.1_Missense_Mutation_p.R427I|FXR1_ENST00000491062.1_Missense_Mutation_p.R391I	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	440					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACAGCAGGAGACGCCCAGGA	0.532000													13	35					3.27435e-08	1.24349e-07	0.00244969	1	0
BAZ2A	11176	broad.mit.edu	37	12	56998871	56998871	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:56998871G>C	ENST00000179765.5	-	15	2843	c.2644C>G	c.(2644-2646)Ccc>Gcc	p.P882A	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P884A|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P914A|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P912A			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	914	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGAGGGAAAGCCAGGA	0.502000													12	33					0	0	0.000978159	0	0
SSBP4	170463	broad.mit.edu	37	19	18542815	18542815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:18542815C>T	ENST00000270061.6	+	9	791	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	SSBP4_ENST00000348495.5_Missense_Mutation_p.P169S	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	191	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCCAGGGCATCCGAGCATGGG	0.667000													9	14					0	0	0.000673444	0	0
TTC18	118491	broad.mit.edu	37	10	75035313	75035313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75035313C>T	ENST00000310715.3	-	23	2894	c.2774G>A	c.(2773-2775)gGa>gAa	p.G925E	TTC18_ENST00000355577.3_Missense_Mutation_p.G394E|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.G925E|TTC18_ENST00000394865.1_Missense_Mutation_p.G925E|DNAJC9-AS1_ENST00000440197.2_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	925							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCTGGGGCCTCCTTGAGGGCA	0.453000													75	105					0	0	0.000781405	0	0
FBXO7	25793	broad.mit.edu	37	22	32894465	32894465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:32894465C>T	ENST00000266087.7	+	9	1844	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	FBXO7_ENST00000397426.1_Missense_Mutation_p.P392L|FBXO7_ENST00000382058.3_Missense_Mutation_p.P427L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	506					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACAGATTTCCCTTTAGACCC	0.507000													14	13					0	0	0.00185496	0	0
OBSCN	84033	broad.mit.edu	37	1	228505743	228505743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228505743G>A	ENST00000570156.2	+	64	16945	c.16871G>A	c.(16870-16872)gGg>gAg	p.G5624E	OBSCN_ENST00000284548.11_Missense_Mutation_p.G4667E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1786E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4667E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2301E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4667	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCGGTGGGCGGTTCGAG	0.627000													48	129					0	0	0.000781405	0	0
CHPT1	56994	broad.mit.edu	37	12	102108354	102108354	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:102108354T>C	ENST00000549872.1	+	3	684	c.494T>C	c.(493-495)tTt>tCt	p.F165S	CHPT1_ENST00000229266.3_Missense_Mutation_p.F165S|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	165					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTCTGCTCTTTTATTGGGATG	0.353000													47	64					0	0	0.000781405	0	0
GPI	2821	broad.mit.edu	37	19	34884843	34884843	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:34884843C>T	ENST00000415930.3	+	12	1137	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	GPI_ENST00000356487.5_Silent_p.L312L|GPI_ENST00000586425.1_Silent_p.L312L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	312					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CACGACGCCCCTGGAGAAGAA	0.612000													39	71					0	0	0.0025221	0	0
CHL1	10752	broad.mit.edu	37	3	425548	425548	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:425548G>A	ENST00000256509.2	+	19	2868	c.2226G>A	c.(2224-2226)aaG>aaA	p.K742K	CHL1_ENST00000397491.2_Silent_p.K726K|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	726	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTCAACCCAAGGAAATGATTA	0.343000													35	40					0	0	0.00148497	0	0
RGS3	5998	broad.mit.edu	37	9	116260307	116260307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:116260307C>T	ENST00000374140.2	+	11	1053	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	RGS3_ENST00000350696.5_Missense_Mutation_p.P282S|RGS3_ENST00000317613.6_Missense_Mutation_p.P170S	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	282					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTTCCAGACCCGCTGCTGAG	0.567000													9	22					0	0	0.000442599	0	0
FPGS	2356	broad.mit.edu	37	9	130575601	130575601	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:130575601C>T	ENST00000373225.3	+	15	1541	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	FPGS_ENST00000393706.2_Silent_p.P468P|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Silent_p.P494P|FPGS_ENST00000373245.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	494					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GCCCAGAGCCCGGTGGGTCCG	0.652000													12	16					0	0	0.00136819	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560939	44560939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:44560939C>T	ENST00000332567.4	-	1	1049	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	233					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTTTTTCCTGGCGAGAC	0.617000													8	10					0	0	0.000157383	0	0
NYAP2	57624	broad.mit.edu	37	2	226446850	226446850	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:226446850G>A	ENST00000272907.6	+	4	1130	c.717G>A	c.(715-717)gaG>gaA	p.E239E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	239																	GAGACCCCGAGGAAGAGGAGC	0.592000													45	77					0	0	0.000781405	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674572	71674572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:71674572G>A	ENST00000299952.4	+	3	918	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	295	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCCAAGAGTCGAACAATGTTG	0.587000													22	19					0	0	0.000586117	0	0
DNMBP	23268	broad.mit.edu	37	10	101643875	101643875	+	Missense_Mutation	SNP	T	T	C	rs116046885	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:101643875T>C	ENST00000342239.3	-	15	4053	c.3962A>G	c.(3961-3963)aAt>aGt	p.N1321S	DNMBP_ENST00000324109.4_Missense_Mutation_p.N1297S|DNMBP_ENST00000543621.1_Missense_Mutation_p.N543S|DNMBP_ENST00000540316.1_Missense_Mutation_p.N233S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1297	SH3 5.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTGAGCAGCATTGAAGTTCCG	0.517000													40	44					0	0	0.00148497	0	0
SLC22A3	6581	broad.mit.edu	37	6	160868816	160868816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:160868816C>T	ENST00000392145.1	+	10	1606	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S	SLC22A3_ENST00000275300.2_Missense_Mutation_p.P526S			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	526						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TATTGCCTTGCCAGAGACAGT	0.448000													31	19					0	0	0.00148497	0	0
RYR1	6261	broad.mit.edu	37	19	38949920	38949920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:38949920G>A	ENST00000355481.4	+	19	2433	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	RYR1_ENST00000359596.3_Missense_Mutation_p.E768K|RYR1_ENST00000360985.3_Missense_Mutation_p.E768K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	768	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGTGTCTTTGAGTCCTTCAA	0.617000													11	27					0	0	0.00244969	0	0
PAK7	57144	broad.mit.edu	37	20	9525085	9525085	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:9525085C>T	ENST00000378429.3	-	9	2346	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	PAK7_ENST00000353224.5_Silent_p.R600R|PAK7_ENST00000378423.1_Silent_p.R600R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	600	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAATGATTTCCTCTTCGGCA	0.453000													42	43					0	0	0.00222228	0	0
AKAP9	10142	broad.mit.edu	37	7	91712547	91712547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:91712547G>A	ENST00000359028.2	+	34	8485	c.8260G>A	c.(8260-8262)Gag>Aag	p.E2754K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2742K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2754K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2754	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCACCTCGCAGAGGCAAAAGA	0.378000			T	BRAF	papillary thyroid								23	28					0	0	0.000720815	0	0
SPATA17	128153	broad.mit.edu	37	1	217915317	217915317	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:217915317G>A	ENST00000366933.4	+	6	451	c.395_splice	c.e6-1	p.R132_splice		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	132						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTGATGCAGGAAGGCACTGG	0.388000													17	52					0	0	0.000958276	0	0
HRNR	388697	broad.mit.edu	37	1	152187528	152187528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152187528C>T	ENST00000368801.2	-	3	6652	c.6577G>A	c.(6577-6579)Ggg>Agg	p.G2193R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2193					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAGTGCCCCGAACCGGAC	0.637000													28	271					0	0	0.00283554	0	0
LAMA3	3909	broad.mit.edu	37	18	21441765	21441765	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:21441765G>A	ENST00000313654.9	+	35	4819	c.4578G>A	c.(4576-4578)ggG>ggA	p.G1526G	LAMA3_ENST00000399516.3_Silent_p.G1526G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1526	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTACCTGGGGGACAAGGTAA	0.572000													4	7					0	0	0.00024832	0	0
RSRC1	51319	broad.mit.edu	37	3	158261214	158261214	+	Missense_Mutation	SNP	G	G	A	rs144776555		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:158261214G>A	ENST00000464171.1	+	8	801	c.676G>A	c.(676-678)Gat>Aat	p.D226N	RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000295930.3_Missense_Mutation_p.D284N|RSRC1_ENST00000480820.1_Missense_Mutation_p.D284N|RSRC1_ENST00000312179.6_Missense_Mutation_p.D226N	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	284					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.D284N(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAAAGAAATAGATCCTACCAG	0.418000													32	32					0	0	0.0024448	0	0
CEP44	80817	broad.mit.edu	37	4	175237393	175237393	+	Silent	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:175237393T>A	ENST00000503780.1	+	10	1452	c.1038T>A	c.(1036-1038)acT>acA	p.T346T	CEP44_ENST00000457424.2_Silent_p.T346T|CEP44_ENST00000426172.1_Silent_p.T346T|CEP44_ENST00000296519.4_Silent_p.T346T	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	346						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CAGATTCAACTCCCAGAGCCT	0.378000													50	75					0	0	0.000781405	0	0
IFIT2	3433	broad.mit.edu	37	10	91066303	91066303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91066303C>T	ENST00000371826.3	+	2	759	c.590C>T	c.(589-591)cCt>cTt	p.P197L	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	197					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GCCATTGACCCTCTGAGGCAA	0.507000													18	32					0	0	0.000958276	0	0
SORL1	6653	broad.mit.edu	37	11	121367677	121367677	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:121367677C>T	ENST00000260197.7	+	6	987	c.858C>T	c.(856-858)tcC>tcT	p.S286S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	286					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTCCAGTCCCGGGAAAACC	0.443000													23	30					0	0	0.000586117	0	0
CEP290	80184	broad.mit.edu	37	12	88483138	88483138	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:88483138A>T	ENST00000552810.1	-	31	4043	c.3700T>A	c.(3700-3702)Tac>Aac	p.Y1234N	CEP290_ENST00000309041.7_Missense_Mutation_p.Y1236N|CEP290_ENST00000397838.3_Missense_Mutation_p.Y294N|CEP290_ENST00000547691.2_Missense_Mutation_p.Y294N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1234					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGCAAGTTGTAGGCCTCCATC	0.433000													20	32					0	0	0.00188189	0	0
AP2M1	1173	broad.mit.edu	37	3	183899730	183899730	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:183899730C>T	ENST00000382456.3	+	8	1166	c.852C>T	c.(850-852)ccC>ccT	p.P284P	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.P311P|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000292807.5_Silent_p.P286P|AP2M1_ENST00000439647.1_Silent_p.P284P	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	286	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCATCCTTCCCTTCCGGGTGA	0.537000													12	20					0	0	0.00185496	0	0
PIGG	54872	broad.mit.edu	37	4	517605	517605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:517605C>T	ENST00000453061.2	+	9	2078	c.1972C>T	c.(1972-1974)Ccg>Tcg	p.P658S	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.P650S|PIGG_ENST00000504346.1_Missense_Mutation_p.P569S|PIGG_ENST00000383028.4_Missense_Mutation_p.P525S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	658					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTGGCCAGTCCGTGGCTAAT	0.652000													7	6					0	0	0.00198382	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283637	47283637	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:47283637G>A	ENST00000271153.4	+	10	1241	c.1204_splice	c.e10-1	p.G402_splice	CYP4B1_ENST00000452782.2_Splice_Site_p.G240_splice|CYP4B1_ENST00000371923.4_Splice_Site_p.G403_splice|CYP4B1_ENST00000371919.4_Splice_Site_p.G388_splice			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	402					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGCCCACAGGAAGCCTGATC	0.572000													31	74					0	0	0.00111076	0	0
ATR	545	broad.mit.edu	37	3	142281767	142281767	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:142281767G>A	ENST00000350721.4	-	4	598	c.477C>T	c.(475-477)ctC>ctT	p.L159L	ATR_ENST00000383101.3_Silent_p.L159L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	159					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCTTCTATGGAGGTAAACCA	0.358000								Other conserved DNA damage response genes					42	74					0	0	0.000781405	0	0
VSIG2	23584	broad.mit.edu	37	11	124617497	124617497	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124617497G>A	ENST00000326621.5	-	7	1018	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NRGN_ENST00000526916.2_3'UTR	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	306						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTCTTTCCAGGAACCCCTTGC	0.562000													18	36					0	0	0.00121646	0	0
SYT15	83849	broad.mit.edu	37	10	46968620	46968620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:46968620C>T	ENST00000374323.3	-	2	1062	c.475G>A	c.(475-477)Gca>Aca	p.A159T	SYT15_ENST00000374325.3_Missense_Mutation_p.A106T|SYT15_ENST00000374321.4_Missense_Mutation_p.A106T|SYT15_ENST00000503753.1_Missense_Mutation_p.A106T			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	106	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCTCTGATGCCGGGCAGGGG	0.667000													6	20					0	0	0.00116845	0	0
NTRK1	4914	broad.mit.edu	37	1	156834185	156834185	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:156834185C>T	ENST00000368196.3	+	2	372	c.252C>T	c.(250-252)ctC>ctT	p.L84L	NTRK1_ENST00000524377.1_Silent_p.L84L|NTRK1_ENST00000358660.3_Silent_p.L84L|NTRK1_ENST00000392302.2_Silent_p.L54L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	84					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ATCTGGAGCTCCGTGATCTGA	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			18	64					0	0	0.00047179	0	0
CACNA1B	774	broad.mit.edu	37	9	141016315	141016315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:141016315C>T	ENST00000277549.5	+	47	7035	c.4466C>T	c.(4465-4467)tCc>tTc	p.S1489F	CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2296F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2294F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2293F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2295F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2233S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2295					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCAGGACTTCCTACGTGTCC	0.662000													20	38					0	0	0.00229938	0	0
NCAN	1463	broad.mit.edu	37	19	19345817	19345817	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19345817C>T	ENST00000252575.5	+	10	3205	c.3162C>T	c.(3160-3162)ccC>ccT	p.P1054P	NCAN_ENST00000538881.1_Silent_p.P505P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1054	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCTGCAGCCCCTGTGAGAATG	0.532000													40	70					0	0	0.0025221	0	0
EDN3	1908	broad.mit.edu	37	20	57876604	57876604	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57876604G>A	ENST00000311585.7	+	2	562	c.192G>A	c.(190-192)ggG>ggA	p.G64G	EDN3_ENST00000371028.2_Silent_p.G64G|EDN3_ENST00000337938.2_Silent_p.G64G|EDN3_ENST00000395654.3_Silent_p.G64G|EDN3_ENST00000371025.3_Silent_p.G64G	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	64					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGGCGAGGGGACTGTGGCCC	0.711000													38	12					0	0	0.000814825	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39706219	39706219	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:39706219T>G	ENST00000553728.1	+	2	422	c.209T>G	c.(208-210)gTt>gGt	p.V70G	MIA2_ENST00000280082.3_Missense_Mutation_p.V70G|MIA2_ENST00000556784.1_Missense_Mutation_p.V70G																							TCTGTTTATGTTAAACTTGCA	0.378000													13	18					0	0	0.00185496	0	0
TRANK1	9881	broad.mit.edu	37	3	36872700	36872700	+	Missense_Mutation	SNP	C	C	T	rs113812469		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:36872700C>T	ENST00000301807.6	-	21	8489	c.6592G>A	c.(6592-6594)Ggg>Agg	p.G2198R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2198R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2748R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2748					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAAGCTGCCCCCTCAAACGCT	0.547000													21	27					0	0	0.00188189	0	0
ASXL3	80816	broad.mit.edu	37	18	31325947	31325947	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:31325947C>T	ENST00000269197.5	+	12	6135	c.6135C>T	c.(6133-6135)ctC>ctT	p.L2045L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2045	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ctccacctcTCCCTAATGCAG	0.582000													5	8					0	0	0.000602214	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377625	6377625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:6377625C>T	ENST00000335585.5	-	4	391	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R116Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R106Q|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R116Q|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.R123Q	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	123					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CCTTTTATCTCGTTCGGTAAT	0.443000													49	61					0	0	0.000781405	0	0
REV1	51455	broad.mit.edu	37	2	100038043	100038043	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:100038043G>A	ENST00000258428.3	-	11	1977	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.T582T	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	583	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTAAGTTTGGTCTCTGCAA	0.418000								Direct reversal of damage					46	70					0	0	0.00285205	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873490	43873490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43873490G>A	ENST00000420765.1	-	9	1056	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000396923.3_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.R292*	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	292					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R292*(1)		large_intestine(1)	1						ACTGGATATCGAATCTCTTTC	0.512000													66	87					0	0	0.000781405	0	0
ANKAR	150709	broad.mit.edu	37	2	190584441	190584441	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:190584441A>C	ENST00000520309.1	+	11	2456	c.2368A>C	c.(2368-2370)Aac>Cac	p.N790H	ANKAR_ENST00000438402.2_Missense_Mutation_p.N790H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N719H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N554H|ANKAR_ENST00000313581.4_Missense_Mutation_p.N790H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	790						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATCTCTAATCAACCTACTGGT	0.408000													24	37					0	0	0.000878237	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568538	99568538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:99568538C>T	ENST00000331335.5	-	5	2452	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R237Q|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R421Q|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R661Q|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R421Q|CMSS1_ENST00000496116.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	661						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						AGCATACCTTCGTTCTAGAGT	0.373000													40	90					0	0	0.00222228	0	0
CCDC78	124093	broad.mit.edu	37	16	775518	775518	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:775518G>A	ENST00000293889.6	-	4	435	c.330C>T	c.(328-330)ggC>ggT	p.G110G		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	110										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGACTGCACAGCCCTGGCTGG	0.637000													17	19					0	0	0.000958276	0	0
OR51A2	401667	broad.mit.edu	37	11	4976492	4976492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4976492G>A	ENST00000380371.1	-	1	451	c.452C>T	c.(451-453)tCc>tTc	p.S151F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTAAAGGAGAATACTAT	0.423000													66	24					0	0	0.000781405	0	0
MECOM	2122	broad.mit.edu	37	3	168838981	168838981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:168838981C>T	ENST00000464456.1	-	6	1631	c.431G>A	c.(430-432)aGc>aAc	p.S144N	MECOM_ENST00000472280.1_Missense_Mutation_p.S145N|MECOM_ENST00000468789.1_Missense_Mutation_p.S144N|MECOM_ENST00000460814.1_Missense_Mutation_p.S144N|MECOM_ENST00000433243.2_Missense_Mutation_p.S145N|MECOM_ENST00000392736.3_Missense_Mutation_p.S144N|MECOM_ENST00000264674.3_Missense_Mutation_p.S209N|MECOM_ENST00000494292.1_Missense_Mutation_p.S332N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	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						CTGAAGGTTGCTAGGGTCCGT	0.502000													10	17					0	0	0.000442599	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269945	43269945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:43269945G>A	ENST00000372585.5	+	8	1164	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	SLC22A7_ENST00000372574.3_Missense_Mutation_p.V355M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.V355M	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	357						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGGTTCGGAGTGAACTTCTC	0.552000													29	36					0	0	0.000953801	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123330627	123330627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123330627C>T	ENST00000349780.4	-	3	346	c.167G>A	c.(166-168)aGa>aAa	p.R56K	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R56K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R56K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R56K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	56					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTTCCGTGCTCTGGTGGGAGA	0.453000													67	83					0	0	0.000781405	0	0
OTOL1	131149	broad.mit.edu	37	3	161214704	161214704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:161214704G>A	ENST00000327928.4	+	1	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	37						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAAATCTGAGGAAAGAGAGAT	0.413000													6	18					0	0	0.00116845	0	0
VSTM4	196740	broad.mit.edu	37	10	50315776	50315776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:50315776C>T	ENST00000332853.3	-	2	343	c.320G>A	c.(319-321)gGg>gAg	p.G107E	VSTM4_ENST00000298454.3_Missense_Mutation_p.G107E	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	107	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTAGAGCGCCCCCCGCTGCTC	0.602000													35	46					0	0	0.000953801	0	0
CYB5R4	51167	broad.mit.edu	37	6	84573933	84573933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:84573933C>T	ENST00000369681.4	+	2	255	c.115C>T	c.(115-117)Cga>Tga	p.R39*	CYB5R4_ENST00000369679.4_Nonsense_Mutation_p.R5*	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	39					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GGATTGGATTCGACTGACCAA	0.328000													28	15					0	0	0.00106085	0	0
SYT10	341359	broad.mit.edu	37	12	33559763	33559763	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33559763C>T	ENST00000228567.3	-	3	1334	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	SYT10_ENST00000535526.1_Silent_p.R165R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	346						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTGGCTTCCCTGGAGAGAT	0.343000													18	21					0	0	0.00188189	0	0
PEG3	5178	broad.mit.edu	37	19	57329130	57329130	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57329130G>A	ENST00000326441.9	-	9	1209	c.846C>T	c.(844-846)taC>taT	p.Y282Y	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.Y282Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.Y156Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.Y158Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	282					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTGCTTGGGTAGGCACTTC	0.517000													18	25					0	0	0.000958276	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913746	14913746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:14913746C>T	ENST00000334636.5	-	1	52	c.6G>A	c.(4-6)tgG>tgA	p.W2*		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	2					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCCAAAGCTTCCACATCGGCC	0.672000													6	16					0	0	0.00116845	0	0
FAM208B	54906	broad.mit.edu	37	10	5789846	5789846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:5789846G>A	ENST00000328090.5	+	15	5087	c.4462G>A	c.(4462-4464)Gga>Aga	p.G1488R		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1488																	TGATCATCCAGGAAGAACAGG	0.443000													15	16					0	0	0.000308642	0	0
SYT3	84258	broad.mit.edu	37	19	51132596	51132596	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51132596C>T	ENST00000338916.4	-	4	1869	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	SYT3_ENST00000600079.1_Silent_p.Q412Q|SYT3_ENST00000593901.1_Silent_p.Q412Q|SYT3_ENST00000544769.1_Silent_p.Q412Q	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	412						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGTCAGGGGGCTGCTCGGCCA	0.672000													4	13					0	0	0.00024832	0	0
ZNF45	7596	broad.mit.edu	37	19	44417609	44417609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:44417609C>T	ENST00000269973.5	-	10	3069	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	ZNF45_ENST00000589703.1_Missense_Mutation_p.R660Q|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	660					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AGCATGGACTCGCTGATGAAT	0.443000													25	29					0	0	0.000720815	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773672	140773672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140773672C>T	ENST00000398604.2	+	1	1292	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACCACCTCTGTCCACT	0.428000													11	18					0	0	0.00136819	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405065	61405065	+	RNA	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61405065C>G	ENST00000496593.1	+	0	1669					NR_002775.2																						AAGGAAGAGTCGGAGGGAGGA	0.522000													19	39					0	0	0.00152264	0	0
NLRP3	114548	broad.mit.edu	37	1	247587996	247587996	+	Silent	SNP	C	C	T	rs139852370		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247587996C>T	ENST00000366497.2	+	4	2031	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NLRP3_ENST00000336119.3_Silent_p.I417I|NLRP3_ENST00000348069.2_Silent_p.I417I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.I417I|NLRP3_ENST00000391828.3_Silent_p.I417I|NLRP3_ENST00000366496.2_Silent_p.I417I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	417	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGCTGGATCGTGTGCACTG	0.552000													20	62					0	0	0.00188189	0	0
PCLO	27445	broad.mit.edu	37	7	82544628	82544628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:82544628G>A	ENST00000423517.2	-	7	13011	c.12674C>T	c.(12673-12675)tCa>tTa	p.S4225L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4225L|PCLO_ENST00000437081.1_Missense_Mutation_p.S945L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4156	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCAATAGATGAAGTGCTAGA	0.363000													11	13					0	0	0.000978159	0	0
HERC1	8925	broad.mit.edu	37	15	63920935	63920935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:63920935G>T	ENST00000443617.2	-	70	13133	c.13046C>A	c.(13045-13047)tCg>tAg	p.S4349*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4349					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCGGCCAGCCGAGATCTGCCG	0.507000													6	63					0.00116845	0.00439801	0.00116845	1	0
GREB1	9687	broad.mit.edu	37	2	11750946	11750946	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:11750946G>A	ENST00000381486.2	+	18	3099	c.2799G>A	c.(2797-2799)caG>caA	p.Q933Q	GREB1_ENST00000234142.5_Silent_p.Q933Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	933						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGATCACGCAGAACCTCCTCA	0.662000													16	18					0	0	0.000422831	0	0
ADAM2	2515	broad.mit.edu	37	8	39644506	39644506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39644506C>T	ENST00000265708.4	-	10	981	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ADAM2_ENST00000347580.4_Missense_Mutation_p.G274E|ADAM2_ENST00000521880.1_Missense_Mutation_p.G293E|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	293	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AACAACACCTCCTGCATAGTT	0.294000													14	25					0	0	0.000422831	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397851	110397851	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:110397851G>A	ENST00000378402.5	+	6	665	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	187	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAATGTTAGGATTTTGAGGT	0.289000										HNSCC(38;0.096)			21	26					0	0	0.00188189	0	0
NLRP7	199713	broad.mit.edu	37	19	55447723	55447723	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55447723G>A	ENST00000588756.1	-	8	2692	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	NLRP7_ENST00000328092.5_Silent_p.L708L|NLRP7_ENST00000592784.1_Silent_p.L736L|NLRP7_ENST00000590030.1_Silent_p.L736L|NLRP7_ENST00000448121.2_Silent_p.L708L|NLRP7_ENST00000446217.1_Silent_p.L764L|NLRP7_ENST00000340844.2_Silent_p.L736L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	736							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCAGGGTCAGGTGCGTGAGG	0.527000													19	36					0	0	0.00074312	0	0
ABCC12	94160	broad.mit.edu	37	16	48167728	48167728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:48167728C>T	ENST00000311303.3	-	7	1343	c.998G>A	c.(997-999)aGa>aAa	p.R333K	ABCC12_ENST00000448542.1_Missense_Mutation_p.R333K|ABCC12_ENST00000416054.1_Missense_Mutation_p.R333K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	333	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTAATTTTCTTTCCCTCCT	0.443000													12	40					0	0	0.00185496	0	0
CPT2	1376	broad.mit.edu	37	1	53676143	53676143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53676143C>T	ENST00000371486.3	+	4	1312	c.797C>T	c.(796-798)cCc>cTc	p.P266L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	266					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTGTGAGCCCCTCGGAAATC	0.507000													19	38					0	0	0.00121646	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891210	29891210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:29891210C>T	ENST00000308713.5	-	9	2075	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	SEZ6L2_ENST00000350527.3_Nonsense_Mutation_p.W446*|SEZ6L2_ENST00000346932.5_Nonsense_Mutation_p.W402*|SEZ6L2_ENST00000537485.1_Nonsense_Mutation_p.W472*	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	516	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTGTCGTTCCAGTGGGGTT	0.627000													74	99					0	0	0.000781405	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6866924G>A	ENST00000299454.4	+	1	42	c.11G>A	c.(10-12)gGa>gAa	p.G4E	OR10A5_ENST00000379831.2_Missense_Mutation_p.G8E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGCTATAGGAAACTGGACA	0.383000													46	68					0	0	0.000781405	0	0
C15orf53	400359	broad.mit.edu	37	15	38990679	38990679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:38990679G>A	ENST00000318792.1	+	2	483	c.473G>A	c.(472-474)aGg>aAg	p.R158K		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	158										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		TCCACCAGGAGGAGAGCATGC	0.547000													4	11					0	0	0.000602214	0	0
SREBF2	6721	broad.mit.edu	37	22	42263286	42263286	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:42263286T>C	ENST00000361204.4	+	2	704		c.e2+2			NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2						cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTTTCAAGGTGATTCAGAAG	0.448000													26	60					0	0	0.00127121	0	0
SPAG17	200162	broad.mit.edu	37	1	118523897	118523897	+	Silent	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:118523897A>T	ENST00000336338.5	-	43	6065	c.6000T>A	c.(5998-6000)ccT>ccA	p.P2000P	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2000						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATACCTTCAGGAGATTTTG	0.393000													38	42					0	0	0.00222228	0	0
CHERP	10523	broad.mit.edu	37	19	16641485	16641485	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:16641485G>A	ENST00000546361.2	-	7	938	c.786_splice	c.e7-1	p.L263_splice	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Splice_Site_p.L274_splice	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	263	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCTGCAGGAGCTGGCGGTGG	0.662000													14	37					0	0	0.00244969	0	0
NHLRC2	374354	broad.mit.edu	37	10	115661517	115661517	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:115661517A>G	ENST00000369301.3	+	7	1444	c.1232A>G	c.(1231-1233)cAa>cGa	p.Q411R		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	411					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGTTTTGCCCAACCTTCAGGC	0.458000													48	110					0	0	0.000781405	0	0
SOGA2	23255	broad.mit.edu	37	18	8784328	8784328	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:8784328C>T	ENST00000359865.3	+	6	1360	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	SOGA2_ENST00000400050.3_Silent_p.P406P|SOGA2_ENST00000306329.11_Silent_p.P766P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.P406P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	757																	TGCCCCAGCCCAAGCGGGAAG	0.672000													19	30					0	0	0.00188189	0	0
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:123847819C>T	ENST00000531945.1	-	1	669	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567000													21	36					0	0	0.00121646	0	0
PTPRU	10076	broad.mit.edu	37	1	29618476	29618476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:29618476C>T	ENST00000323874.8	+	15	2524	c.2414C>T	c.(2413-2415)aCc>aTc	p.T805I	PTPRU_ENST00000460170.2_Missense_Mutation_p.T805I|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.T805I|PTPRU_ENST00000356870.3_Missense_Mutation_p.T805I|PTPRU_ENST00000428026.2_Missense_Mutation_p.T805I|PTPRU_ENST00000345512.3_Missense_Mutation_p.T815I			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	815	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACCAGAGCACCCTGCAGGAG	0.627000													12	27					0	0	0.00185496	0	0
ANO4	121601	broad.mit.edu	37	12	101437354	101437354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:101437354C>T	ENST00000392979.3	+	12	1448	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P398S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	398						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATCATGTGTCCTGTGTGTGA	0.368000										HNSCC(74;0.22)			26	37					0	0	0.00178596	0	0
PODN	127435	broad.mit.edu	37	1	53535657	53535657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53535657G>A	ENST00000371500.3	+	4	558	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.E92K|PODN_ENST00000312553.5_Missense_Mutation_p.E92K	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	44	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAAGAGAACGAATTTGCGGA	0.687000													4	10					0	0	0.00116845	0	0
IGSF9	57549	broad.mit.edu	37	1	159912790	159912790	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:159912790G>A	ENST00000368094.1	-	3	407	c.210C>T	c.(208-210)ttC>ttT	p.F70F	IGSF9_ENST00000361509.3_Silent_p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	70	Ig-like 1.					cell junction|integral to membrane|synapse		p.F70F(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTAGAGGCCGAACTGGATGA	0.602000													17	69					0	0	0.00152264	0	0
KIF18A	81930	broad.mit.edu	37	11	28113042	28113042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:28113042G>A	ENST00000263181.6	-	4	792	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	168	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AAGAGATCACGAATCTGTTCA	0.348000													40	48					0	0	0.00195071	0	0
OR1J4	26219	broad.mit.edu	37	9	125281758	125281758	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125281758C>T	ENST00000340750.1	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TAGACAATTTCCTTCTCACTT	0.408000													42	42					0	0	0.00195071	0	0
TRIM55	84675	broad.mit.edu	37	8	67066387	67066387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:67066387G>A	ENST00000315962.4	+	9	1715	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	TRIM55_ENST00000276573.7_Missense_Mutation_p.G448S|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	448						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTGGTATAAAGGCCAAACCCG	0.552000													16	30					0	0	0.000422831	0	0
MTA3	57504	broad.mit.edu	37	2	42936176	42936176	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:42936176C>T	ENST00000405592.1	+	15	1964	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000407270.3_Silent_p.L489L|MTA3_ENST00000406911.1_Silent_p.L488L|MTA3_ENST00000406652.1_Silent_p.L432L|MTA3_ENST00000405094.1_Silent_p.L489L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	489						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TACCCTCCGGCTGCGGCAGGC	0.438000													10	12					0	0	0.000673444	0	0
CPNE5	57699	broad.mit.edu	37	6	36714266	36714266	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:36714266G>A	ENST00000244751.2	-	16	1731	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	CPNE5_ENST00000393189.2_Silent_p.I77I|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	369	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTGCTGGATGATCTCTCCGA	0.617000													27	28					0	0	0.001512	0	0
OR4P4	81300	broad.mit.edu	37	11	55406121	55406121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55406121G>A	ENST00000314612.2	+	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATAACTGTATGATACAACTCT	0.448000													31	43					0	0	0.00283554	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131705	82131705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:82131705G>A	ENST00000199936.4	+	5	1021	c.828G>A	c.(826-828)tgG>tgA	p.W276*	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	276					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GTGACAAGTGGGAAAAGCTGG	0.537000													18	23					0	0	0.000958276	0	0
TDRD5	163589	broad.mit.edu	37	1	179564890	179564890	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:179564890A>T	ENST00000444136.1	+	4	1018	c.768A>T	c.(766-768)gaA>gaT	p.E256D	TDRD5_ENST00000294848.8_Missense_Mutation_p.E256D|TDRD5_ENST00000367614.1_Missense_Mutation_p.E256D	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	256					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAGCATGGAAAAGACTTCCA	0.393000													26	84					0	0	0.0024448	0	0
SSBP4	170463	broad.mit.edu	37	19	18542816	18542816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:18542816C>T	ENST00000270061.6	+	9	792	c.572C>T	c.(571-573)cCg>cTg	p.P191L	SSBP4_ENST00000348495.5_Missense_Mutation_p.P169L	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	191	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCAGGGCATCCGAGCATGGGC	0.672000													9	14					0	0	0.000673444	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559641	140559641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140559641G>A	ENST00000239444.2	+	1	2271	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		676					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGCTTCCGGAGGCTGCCCC	0.667000													39	45					0	0	0.00148497	0	0
VAV1	7409	broad.mit.edu	37	19	6825388	6825388	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6825388C>T	ENST00000304076.2	+	8	892	c.798C>T	c.(796-798)ctC>ctT	p.L266L	VAV1_ENST00000602142.1_Silent_p.L266L|VAV1_ENST00000599806.1_Silent_p.L211L|VAV1_ENST00000596764.1_Silent_p.L234L|VAV1_ENST00000539284.1_Silent_p.L169L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	266	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCCAATCTCTACCAGGTCT	0.567000													14	19					0	0	0.000566183	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433158	73433158	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:73433158C>T	ENST00000263666.4	-	10	2673	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q	PDZRN3_ENST00000535920.1_Silent_p.Q575Q|PDZRN3_ENST00000479530.1_Silent_p.Q570Q|PDZRN3_ENST00000466780.1_Silent_p.Q510Q|PDZRN3_ENST00000462146.2_Silent_p.Q510Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	853							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCCCAGCTTCTGGCTGGGCG	0.652000													27	33					0	0	0.000720815	0	0
C14orf39	317761	broad.mit.edu	37	14	60932705	60932705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:60932705C>T	ENST00000321731.3	-	11	1123	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	322										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACCTGTGTATCATTTTCTTTT	0.313000													9	10					0	0	0.00136819	0	0
PIWIL1	9271	broad.mit.edu	37	12	130834508	130834508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:130834508G>A	ENST00000245255.3	+	9	1312	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	347	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAATACTACAGGAAGGTAAGA	0.403000													19	33					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9083313C>T	ENST00000397910.4	-	1	8705	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTCTGTTCGTGGTGATTT	0.507000													6	8					0	0	0.00116845	0	0
CACNA1E	777	broad.mit.edu	37	1	181721289	181721289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181721289G>A	ENST00000526775.1	+	26	3850	c.3685G>A	c.(3685-3687)Gga>Aga	p.G1229R	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1248R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1229R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1199R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1180R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G855R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1248R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1248	Poly-Val.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACCAACAAAGGACGGGACAT	0.478000													32	61					0	0	0.000814825	0	0
NPY4R	5540	broad.mit.edu	37	10	47087528	47087528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:47087528C>T	ENST00000374312.1	+	3	1164	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	NPY4R_ENST00000395716.1_Missense_Mutation_p.H249Y	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCGCGTGTTTCACAAGGGCAC	0.602000													22	95					0	0	0.000878237	0	0
MS4A3	932	broad.mit.edu	37	11	59828728	59828728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:59828728C>T	ENST00000278865.3	+	2	168	c.95C>T	c.(94-96)tCt>tTt	p.S32F	MS4A3_ENST00000358152.2_Missense_Mutation_p.S32F|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.S32F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	32						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CTGAATACTTCTGTCTACCAG	0.488000													21	28					0	0	0.00121646	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912273	102912273	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:102912273G>A	ENST00000312132.4	-	0	2306																											TCCCAAAAATGAAGGTGCTTC	0.303000													19	42					0	0	0.00121646	0	0
TRIM3	10612	broad.mit.edu	37	11	6477915	6477915	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6477915G>A	ENST00000525074.1	-	6	1435	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	TRIM3_ENST00000537602.1_Silent_p.T269T|TRIM3_ENST00000536344.1_Silent_p.T228T|TRIM3_ENST00000359518.3_Silent_p.T347T|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.T347T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	347				T -> A (in Ref. 1; AAC24809 and 2; AAG53474/AAG53475/AAG53476).	nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTGTCTTTGGTAGTGACAG	0.687000													25	27					0	0	0.0024448	0	0
LPIN3	64900	broad.mit.edu	37	20	39977295	39977295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:39977295C>T	ENST00000373257.3	+	4	416	c.325C>T	c.(325-327)Cct>Tct	p.P109S		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	109					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCACCCATCCCTTGGGGGGG	0.667000													35	26					0	0	0.00128727	0	0
SV2B	9899	broad.mit.edu	37	15	91795186	91795186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:91795186G>A	ENST00000394232.1	+	3	1059	c.589G>A	c.(589-591)Gga>Aga	p.G197R	SV2B_ENST00000545111.2_Missense_Mutation_p.G46R|SV2B_ENST00000330276.4_Missense_Mutation_p.G197R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	197					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTTCGTGCAGGGATATGGAGC	0.577000													79	123					0	0	0.000781405	0	0
IL19	29949	broad.mit.edu	37	1	207013243	207013243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:207013243G>A	ENST00000270218.6	+	5	1198	c.259G>A	c.(259-261)Gac>Aac	p.D87N	IL19_ENST00000340758.2_Missense_Mutation_p.D125N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	87					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GTTCTACGTGGACAGGGTGTT	0.473000													184	117					0	0	0.000781405	0	0
PPAP2C	8612	broad.mit.edu	37	19	287697	287697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:287697C>T	ENST00000269812.3	-	3	308	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PPAP2C_ENST00000434325.2_Missense_Mutation_p.D31N|PPAP2C_ENST00000327790.3_Missense_Mutation_p.D108N	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	87					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTGAAGTCCGAGCGAGAA	0.602000													68	140					0	0	0.000781405	0	0
SNW1	22938	broad.mit.edu	37	14	78205405	78205405	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:78205405C>A	ENST00000261531.7	-	4	393		c.e4-1		SNW1_ENST00000555761.1_Splice_Site|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1						negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATAAATGACCTAAAATGTTC	0.398000													9	266					2.80697e-09	1.06746e-08	0.000978159	1	0
OR2H1	26716	broad.mit.edu	37	6	29430318	29430318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:29430318C>T	ENST00000377136.1	+	4	1237	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	OR2H1_ENST00000377132.1_Missense_Mutation_p.L258F|OR2H1_ENST00000396792.2_Missense_Mutation_p.L258F|OR2H1_ENST00000442615.1_Missense_Mutation_p.L258F|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.L258F			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TGCTGTCTACCTCCAGCCCAA	0.527000													32	48					0	0	0.00058488	0	0
PALMD	54873	broad.mit.edu	37	1	100154993	100154993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:100154993G>A	ENST00000263174.4	+	7	1552	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	PALMD_ENST00000605497.1_Missense_Mutation_p.E393K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	393					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGGACGAGGAAGATGTCAG	0.463000													9	13					0	0	0.000274275	0	0
CRYL1	51084	broad.mit.edu	37	13	21013861	21013861	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:21013861C>T	ENST00000382812.1	-	5	471	c.243G>A	c.(241-243)aaG>aaA	p.K81K	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.K103K			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	103					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CAAAAATCTTCTTCTTCAGTT	0.423000													27	39					0	0	0.00127121	0	0
HTR1A	3350	broad.mit.edu	37	5	63256578	63256578	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:63256578C>T	ENST00000323865.3	-	1	1202	c.969G>A	c.(967-969)agG>agA	p.R323R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	323					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTCATTTTTCCTCTCGAAAG	0.607000													20	36					0	0	0.00152264	0	0
TRBV28	28559	broad.mit.edu	37	7	142428907	142428907	+	RNA	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142428907G>T	ENST00000390400.2	+	0	287																											CTAGAGAGAAGAAGGAGCGCT	0.498000													9	8					2.17888e-05	8.25192e-05	0.000442599	1	0
CDH23	64072	broad.mit.edu	37	10	73551085	73551085	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:73551085C>T	ENST00000224721.6	+	46	6266	c.6261C>T	c.(6259-6261)tgC>tgT	p.C2087C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2082	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TAGAGAACTGCCCGCCTGGTA	0.622000													10	4					0	0	0.000978159	0	0
KCNK18	338567	broad.mit.edu	37	10	118969168	118969168	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:118969168C>T	ENST00000334549.1	+	3	513	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	171						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AATTCCCTTTCTTTACCCGCC	0.502000													36	57					0	0	0.00058488	0	0
TTC27	55622	broad.mit.edu	37	2	33003043	33003043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:33003043C>T	ENST00000317907.4	+	14	2006	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	592							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTCTAGAACCCGATGTAAGT	0.438000													13	22					0	0	0.00244969	0	0
CCDC3	83643	broad.mit.edu	37	10	12940443	12940443	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:12940443G>A	ENST00000378839.1	-	7	1363	c.411C>T	c.(409-411)ccC>ccT	p.P137P	CCDC3_ENST00000378825.3_Silent_p.P262P			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	262						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GGGGGCGCACGGGCCCCCGGG	0.667000													23	23					0	0	0.00047179	0	0
NCLN	56926	broad.mit.edu	37	19	3207467	3207467	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:3207467G>A	ENST00000246117.4	+	14	2063	c.1632_splice	c.e14+1	p.Q544_splice	NCLN_ENST00000591062.1_3'UTR|NCLN_ENST00000590671.1_Splice_Site_p.Q470_splice	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	544					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGTCCAGGTGAGCAGTG	0.667000													31	41					0	0	0.00283554	0	0
CABP7	164633	broad.mit.edu	37	22	30123667	30123667	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:30123667C>T	ENST00000216144.3	+	2	467	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	42	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GAGAGGCCTTCAAGGTGTTTG	0.607000													38	46					0	0	0.00195071	0	0
GHR	2690	broad.mit.edu	37	5	42700087	42700087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:42700087G>A	ENST00000230882.4	+	6	791	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GHR_ENST00000537449.1_Missense_Mutation_p.E14K|GHR_ENST00000357703.3_Missense_Mutation_p.E179K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	201	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGAAGTAAATGAAACTAAATG	0.358000													6	12					0	0	0.00198382	0	0
ABCC1	4363	broad.mit.edu	37	16	16177255	16177255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:16177255G>A	ENST00000399408.2	+	17	2323	c.2148G>A	c.(2146-2148)tgG>tgA	p.W716*	ABCC1_ENST00000399410.3_Nonsense_Mutation_p.W716*|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.W716*|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.W716*			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	716	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCAGGCCTGGATTCAGAATG	0.517000													24	46					0	0	0.000586117	0	0
SLC38A3	10991	broad.mit.edu	37	3	50254688	50254688	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:50254688G>A	ENST00000420502.1	+	0	720							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ACATGAACGGGAACTACCTGG	0.587000													10	10					0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21233995	21233995	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:21233995C>T	ENST00000233242.1	-	26	5872	c.5745G>A	c.(5743-5745)ggG>ggA	p.G1915G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1915					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)	GAGCGAGTTTCCCATTGCCAT	0.443000													108	192					0	0	0.000781405	0	0
EPHA6	285220	broad.mit.edu	37	3	96706808	96706808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96706808G>A	ENST00000389672.5	+	3	1123	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	EPHA6_ENST00000470610.2_Missense_Mutation_p.G362E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G268E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	267	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAGTACAGGATATGAAGAA	0.348000													14	18					0	0	0.00185496	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279279	105279279	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:105279279C>T	ENST00000327674.4	-	2	1055	c.720G>A	c.(718-720)caG>caA	p.Q240Q	SERPINA7_ENST00000372563.1_Silent_p.Q240Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	240					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATTGTTCCATCTGGTGCATCA	0.453000													19	7					0	0	0.00152264	0	0
PCLO	27445	broad.mit.edu	37	7	82764818	82764818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:82764818G>A	ENST00000423517.2	-	3	2385	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	PCLO_ENST00000333891.8_Missense_Mutation_p.S683F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	629	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S683F(1)|p.S629F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTTGGGGAAGTCTGCTG	0.527000													23	33					0	0	0.000586117	0	0
OR4N4	283694	broad.mit.edu	37	15	22382732	22382732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:22382732C>T	ENST00000328795.4	+	1	351	c.260C>T	c.(259-261)tCt>tTt	p.S87F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTCTCTGAGAAAAAG	0.507000													7	108					0	0	0.000308642	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462730	48462730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:48462730C>T	ENST00000358536.4	-	8	1986	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G573R|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G573R|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G573R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	573					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATGTTCCCCAAAGTGGCAG	0.612000													32	33					0	0	0.00128727	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144031	91144031	+	Silent	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91144031T>C	ENST00000371809.3	+	2	1041	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	321							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TGTGGACAGATTGGTTCAATT	0.428000													32	44					0	0	0.0024448	0	0
EPHA7	2045	broad.mit.edu	37	6	93968003	93968003	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:93968003C>T	ENST00000369303.4	-	11	2109		c.e11-1			NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7							integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCGAATTCTCCTGAAGTAACA	0.333000													34	21					0	0	0.00195071	0	0
RWDD4	201965	broad.mit.edu	37	4	184572437	184572437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:184572437G>A	ENST00000326397.5	-	3	421	c.149C>T	c.(148-150)tCc>tTc	p.S50F	RWDD4_ENST00000327570.9_Missense_Mutation_p.S50F|RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000512740.1_5'UTR	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	50	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TTCTGTCCAGGAAATCTCTAT	0.358000													37	79					0	0	0.000680045	0	0
COIL	8161	broad.mit.edu	37	17	55027331	55027331	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:55027331G>A	ENST00000240316.4	-	2	1306	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	424	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding	p.S424S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTACAACACAGGAAACAGGAT	0.443000													35	99					0	0	0.000692331	0	0
CPZ	8532	broad.mit.edu	37	4	8603046	8603046	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8603046C>T	ENST00000360986.4	+	3	492	c.318C>T	c.(316-318)gcC>gcT	p.A106A	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Silent_p.A95A|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	106	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCTGGCCCCCCGGTGTG	0.687000													9	8					0	0	0.000274275	0	0
XIRP1	165904	broad.mit.edu	37	3	39229317	39229317	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:39229317C>T	ENST00000340369.3	-	2	1848	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	XIRP1_ENST00000396251.1_Silent_p.Q540Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	540	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACCACTTCCTGCCGGGTGA	0.612000													20	20					0	0	0.00229938	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45567659	45567659	+	RNA	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:45567659C>A	ENST00000575291.1	-	0	257																											TCAAATATACCAGCTGTAATA	0.343000													5	53					0.000602214	0.00227293	0.000602214	1	0
PCDH20	64881	broad.mit.edu	37	13	61987197	61987197	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:61987197C>T	ENST00000409186.1	-	5	3140	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	PCDH20_ENST00000409204.4_Silent_p.V345V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	318	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTCTTTATCCACAGCCTGGA	0.428000													37	58					0	0	0.00170553	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746222	140746222	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140746222C>T	ENST00000518069.1	+	1	2325	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCAACTACGCAGACACGC	0.537000													56	98					0	0	0.000781405	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939710	12939710	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12939710G>A	ENST00000235349.5	-	4	1162	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	364										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTCTATGATGCCACAGT	0.512000													102	154					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122003521	122003521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:122003521G>A	ENST00000498619.1	+	7	3188	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	CASR_ENST00000296154.5_Missense_Mutation_p.G907E|CASR_ENST00000490131.1_Missense_Mutation_p.G907E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	907					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCTCCACGGGATCCACCCCC	0.667000													9	14					0	0	0.000442599	0	0
EPYC	1833	broad.mit.edu	37	12	91363872	91363872	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:91363872C>T	ENST00000261172.3	-	6	839	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	249					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GGATGTGGTCCAAGTTGTTAT	0.443000													39	61					0	0	0.00195071	0	0
PTPRB	5787	broad.mit.edu	37	12	70933765	70933765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:70933765G>A	ENST00000334414.6	-	24	5676	c.5632C>T	c.(5632-5634)Cgt>Tgt	p.R1878C	PTPRB_ENST00000261266.5_Missense_Mutation_p.R1660C|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1570C|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1570C|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1570C|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1790C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1660	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGATCCCTACGAATGCTCAGA	0.408000													17	32					0	0	0.00074312	0	0
PLXNA4	91584	broad.mit.edu	37	7	131830012	131830012	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:131830012C>T	ENST00000359827.3	-	29	6053	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	PLXNA4_ENST00000321063.4_Silent_p.E1697E			Q9HCM2	PLXA4_HUMAN	plexin A4	1697						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAAGATGGTCTCAAAGAGGT	0.522000													11	26					0	0	0.00244969	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319456	130319456	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:130319456G>A	ENST00000299164.2	+	1	588	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CGCGGCGGGCGGGCTTCGGGG	0.716000													5	9					0	0	0.000602214	0	0
CFHR1	3078	broad.mit.edu	37	1	196801090	196801090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:196801090G>A	ENST00000320493.5	+	6	1042	c.954G>A	c.(952-954)tgG>tgA	p.W318*	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W259*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	318	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAACATGTTGGGATGGGAAAC	0.358000													29	74					0	0	0.00283554	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911427	74911427	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:74911427C>T	ENST00000289575.5	+	11	2153	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	SLCO2B1_ENST00000428359.2_Silent_p.I564I|SLCO2B1_ENST00000341411.4_Silent_p.I359I|SLCO2B1_ENST00000532236.1_Silent_p.I470I|SLCO2B1_ENST00000531756.1_Silent_p.I331I|SLCO2B1_ENST00000525650.1_Silent_p.I442I|SLCO2B1_ENST00000454962.2_Silent_p.I359I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	586					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TCATGCTCATCCTAAGGTGAA	0.602000													38	57					0	0	0.00222228	0	0
CFI	3426	broad.mit.edu	37	4	110662205	110662205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:110662205C>T	ENST00000394634.2	-	13	1803	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	CFI_ENST00000394635.3_Missense_Mutation_p.M540I|CFI_ENST00000512148.1_Missense_Mutation_p.M525I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	532	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGTTGGCATCCATACAGACTA	0.443000													64	113					0	0	0.000781405	0	0
DISP1	84976	broad.mit.edu	37	1	223176378	223176378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:223176378C>T	ENST00000284476.6	+	8	1803	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	547	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTTCTCTATCGTGTAGTATT	0.358000													229	620					0	0	0.000781405	0	0
ZNF229	7772	broad.mit.edu	37	19	44933997	44933997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:44933997G>A	ENST00000291187.4	-	6	1263	c.941C>T	c.(940-942)tCt>tTt	p.S314F	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.S320F|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACTCTTAACAGATTTCTCTCC	0.493000													9	17					0	0	0.000274275	0	0
OR51L1	119682	broad.mit.edu	37	11	5020311	5020311	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5020311C>T	ENST00000321543.1	+	1	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCTCTTCTGTCTTGCAT	0.428000													31	46					0	0	0.00058488	0	0
TARSL2	123283	broad.mit.edu	37	15	102201986	102201986	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:102201986G>A	ENST00000335968.3	-	16	2217	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	667					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGATGAATGATCACAGGTC	0.323000													20	32					0	0	0.00047179	0	0
STAB2	55576	broad.mit.edu	37	12	104044327	104044327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104044327C>T	ENST00000388887.2	+	11	1432	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	410	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGTGCTGTTACCTACAGACAA	0.428000													16	24					0	0	0.00121646	0	0
CHRM4	1132	broad.mit.edu	37	11	46407402	46407402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:46407402C>T	ENST00000433765.2	-	1	705	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	236					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCTTTCTTCTCCTTCGGGCCC	0.637000													8	6					0	0	0.000157383	0	0
ITLN2	142683	broad.mit.edu	37	1	160914959	160914959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:160914959C>T	ENST00000368029.3	-	8	1006	c.949G>A	c.(949-951)Gag>Aag	p.E317K	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	317					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACAGCCGCCTCCGTTATCTCC	0.547000													16	46					0	0	0.000958276	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409837	140409837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:140409837G>A	ENST00000406427.1	-	12	1555	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	PNPLA7_ENST00000277531.4_Missense_Mutation_p.P382S|PNPLA7_ENST00000371457.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	382				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTACCTTGTGGGGCCGAAGGG	0.647000													5	7					0	0	0.000602214	0	0
ZNF555	148254	broad.mit.edu	37	19	2853499	2853499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:2853499C>T	ENST00000334241.4	+	4	1574	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	ZNF555_ENST00000591539.1_Missense_Mutation_p.S478F|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACAAATCCTATGAATGC	0.413000													25	43					0	0	0.000586117	0	0
DZIP1	22873	broad.mit.edu	37	13	96246260	96246260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:96246260C>T	ENST00000347108.3	-	14	2050	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R	DZIP1_ENST00000361396.2_Missense_Mutation_p.G521R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G521R|DZIP1_ENST00000376829.2_Missense_Mutation_p.G540R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	540					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTTCTTAGTCCCTTAGTGAGG	0.343000													28	47					0	0	0.001512	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129595	248129595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248129595G>A	ENST00000366480.3	+	1	1061	c.962G>A	c.(961-963)gGa>gAa	p.G321E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGACTGTTGGGATATTGGATA	0.398000													20	56					0	0	0.00278032	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762301	24762301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:24762301C>T	ENST00000376451.2	+	2	405	c.145C>T	c.(145-147)Cct>Tct	p.P49S	KIAA1217_ENST00000396446.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P252S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P331S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P331S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P49S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P331S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P251S			Q5T5P2	SKT_HUMAN	KIAA1217	331					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTCCAGAATTCCTTATGGGGG	0.612000													14	32					0	0	0.00185496	0	0
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139788214C>T	ENST00000303045.6	-	16	2244	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E600K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483000										HNSCC(7;0.00092)			25	44					0	0	0.001512	0	0
KAT6A	7994	broad.mit.edu	37	8	41792157	41792157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:41792157G>A	ENST00000396930.3	-	18	4124	c.3581C>T	c.(3580-3582)tCc>tTc	p.S1194F	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1194F|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1194F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1194					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TTTAGGAATGGAAACGATGGG	0.483000													47	87					0	0	0.000781405	0	0
MAN1A1	4121	broad.mit.edu	37	6	119501111	119501111	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:119501111C>T	ENST00000368468.3	-	13	2277		c.e13-1			NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GTACAAATATCTGGTGAGAGA	0.418000													12	6					0	0	0.000308642	0	0
POLR1B	84172	broad.mit.edu	37	2	113304673	113304673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:113304673C>T	ENST00000263331.5	+	2	842	c.262C>T	c.(262-264)Cca>Tca	p.P88S	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.P126S|POLR1B_ENST00000417433.2_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.P88S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	88					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.P88S(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACCTACAGTTCCAAAAGGGAC	0.453000													27	35					0	0	0.001512	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840680	1840680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:1840680C>T	ENST00000331238.5	-	2	454	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	146					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGCAGGCCGCCAAAGACGCCG	0.627000													15	15					0	0	0.000422831	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140476702C>T	ENST00000194155.4	+	1	2476	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000													35	49					0	0	0.000781405	0	0
AGER	177	broad.mit.edu	37	6	32151127	32151127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32151127C>T	ENST00000375076.4	-	4	495	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	AGER_ENST00000375065.5_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.E132K|AGER_ENST00000375055.2_Missense_Mutation_p.E132K|AGER_ENST00000375067.3_Missense_Mutation_p.E118K|RNF5_ENST00000427134.2_Silent_p.F169F|AGER_ENST00000375069.3_Missense_Mutation_p.E31K|AGER_ENST00000375070.3_Missense_Mutation_p.E163K	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	132	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GCCGTGAGTTCAGAGGCAGAA	0.493000													136	198					0	0	0.000781405	0	0
TMEM61	199964	broad.mit.edu	37	1	55457526	55457526	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:55457526A>G	ENST00000371268.3	+	3	657	c.383A>G	c.(382-384)gAc>gGc	p.D128G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	128						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						AAAGTGGTTGACATCCCCACT	0.632000													27	47					0	0	0.00178596	0	0
NEIL3	55247	broad.mit.edu	37	4	178257437	178257437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:178257437G>A	ENST00000264596.3	+	4	707	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	197					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATCAAAAATGAAGCTCTCTT	0.393000								Base excision repair (BER), DNA glycosylases					47	59					0	0	0.000781405	0	0
LONRF2	164832	broad.mit.edu	37	2	100910764	100910764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:100910764G>A	ENST00000393437.3	-	9	2323	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	LONRF2_ENST00000409647.1_Missense_Mutation_p.R319W	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	562	Lon.		R -> W (in a colorectal cancer sample; somatic mutation).		proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.R562W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATCATAAGCCGATAGCGGGGC	0.527000													27	51					0	0	0.00106085	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:131973708C>T	ENST00000414305.1	+	5	632	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000543135.1_Missense_Mutation_p.R68C|ENPP3_ENST00000358229.5_Missense_Mutation_p.R102C|ENPP3_ENST00000427148.2_Missense_Mutation_p.R68C|ENPP3_ENST00000357639.3_Missense_Mutation_p.R102C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000													30	20					0	0	0.000692331	0	0
H6PD	9563	broad.mit.edu	37	1	9324773	9324773	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:9324773A>T	ENST00000377403.2	+	5	2523	c.2221A>T	c.(2221-2223)Aag>Tag	p.K741*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.K752*	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	741	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCGCGCCAAGAAGGTGGCAGT	0.647000													10	20					0	0	0.00136819	0	0
TMF1	7110	broad.mit.edu	37	3	69092986	69092986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:69092986G>A	ENST00000543976.1	-	4	1748	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S498F|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	498					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ATCTTTCAAGGAAGAAATGCT	0.323000													13	35					0	0	0.00136819	0	0
EPHA2	1969	broad.mit.edu	37	1	16458928	16458928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:16458928G>A	ENST00000358432.5	-	12	2214	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	687	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATCATCATGGGCTTGTCTGT	0.592000													22	41					0	0	0.00278032	0	0
MMADHC	27249	broad.mit.edu	37	2	150426676	150426676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:150426676C>T	ENST00000428879.1	-	7	1207	c.703G>A	c.(703-705)Gga>Aga	p.G235R	MMADHC_ENST00000303319.5_Missense_Mutation_p.G235R|MMADHC_ENST00000422782.2_Missense_Mutation_p.G269R			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	235						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						GTATATGGTCCAAAAAACTGA	0.318000													6	14					0	0	0.00198382	0	0
SRCAP	10847	broad.mit.edu	37	16	30748595	30748595	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:30748595A>T	ENST00000262518.4	+	34	7619	c.7234A>T	c.(7234-7236)Act>Tct	p.T2412S	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2350S|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2254S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2412					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCAAACCACACTCCTGTCAT	0.642000													8	19					0	0	0.000274275	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56757090G>A	ENST00000326855.2	+	1	744	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000													24	41					0	0	0.00278032	0	0
CDX1	1044	broad.mit.edu	37	5	149563195	149563195	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:149563195C>T	ENST00000231656.8	+	3	832	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACCAGCCTCCTGGCCACCT	0.682000													6	13					0	0	0.000157383	0	0
COG8	84342	broad.mit.edu	37	16	69364885	69364885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:69364885C>T	ENST00000306875.4	-	5	1810	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	566					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCTGGTCATCCAGGGTGAAA	0.657000													4	5					0	0	0.00024832	0	0
ABCC3	8714	broad.mit.edu	37	17	48761431	48761431	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48761431T>G	ENST00000285238.8	+	28	4156	c.4076T>G	c.(4075-4077)cTc>cGc	p.L1359R		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1359	ABC transporter 2.			L -> F (in Ref. 11; AAB71756).	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACATCGGCCTCCATGACCTG	0.617000													14	34					0	0	0.000422831	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531868	75531868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:75531868G>A	ENST00000297785.3	-	9	1057	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	335					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGTCAGAGGATTTCCAAGG	0.418000													20	30					0	0	0.00121646	0	0
TJP2	9414	broad.mit.edu	37	9	71852825	71852825	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:71852825C>T	ENST00000377245.4	+	15	2419	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	TJP2_ENST00000539225.1_Silent_p.G768G|TJP2_ENST00000453658.2_Silent_p.G714G|TJP2_ENST00000535702.1_Silent_p.G741G|TJP2_ENST00000265384.7_Silent_p.G737G|TJP2_ENST00000348208.4_Silent_p.G737G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	737	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCTTATTCGGCCCCATAGCTG	0.388000													13	32					0	0	0.000422831	0	0
MAP10	54627	broad.mit.edu	37	1	232941695	232941695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:232941695G>A	ENST00000418460.1	+	1	1053	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CTGCATAATCGAGTGGGCGAG	0.687000													5	21					0	0	0.00198382	0	0
MPP3	4356	broad.mit.edu	37	17	41898295	41898295	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:41898295C>T	ENST00000398393.1	-	9	1151	c.891G>A	c.(889-891)caG>caA	p.Q297Q	MPP3_ENST00000398389.4_Silent_p.Q272Q			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	272					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCGCTTGGCCTGCCACCACG	0.677000													12	23					0	0	0.000978159	0	0
SUGT1	10910	broad.mit.edu	37	13	53240968	53240968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:53240968C>T	ENST00000535397.1	+	11	746	c.373C>T	c.(373-375)Cct>Tct	p.P125S	SUGT1_ENST00000310528.7_Missense_Mutation_p.P181S|SUGT1_ENST00000343788.6_Missense_Mutation_p.P213S			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	213					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGTTAAACTTCCTTCTGGAGA	0.323000													30	60					0	0	0.00209593	0	0
TLR1	7096	broad.mit.edu	37	4	38799295	38799295	+	Silent	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:38799295T>C	ENST00000308979.2	-	4	1431	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	TLR1_ENST00000502213.2_Silent_p.E386E	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	386					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTTTGAAAGTTCTTTTAATT	0.333000													13	21					0	0	0.00136819	0	0
KCNA2	3737	broad.mit.edu	37	1	111146504	111146504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:111146504C>T	ENST00000485317.1	-	3	1574	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.V301I|KCNA2_ENST00000440270.1_Missense_Mutation_p.V301I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	301						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCCTAAAGACTCTTACCAAC	0.527000													32	54					0	0	0.00178596	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13769624C>T	ENST00000265104.4	-	57	9810	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				36	56					0	0	0.000953801	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405281	23405281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:23405281G>A	ENST00000418100.1	-	4	1883	c.1766C>T	c.(1765-1767)cCc>cTc	p.P589L																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						ACATTTGTAGGGTTTCTCTCC	0.353000													8	14					0	0	0.000157383	0	0
STAB2	55576	broad.mit.edu	37	12	104149468	104149468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104149468C>T	ENST00000388887.2	+	63	7163	c.6959C>T	c.(6958-6960)tCc>tTc	p.S2320F	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2320	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCCTGATGTCCTTCCCCTCA	0.562000													40	51					0	0	0.000781405	0	0
MISP	126353	broad.mit.edu	37	19	757331	757331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:757331G>A	ENST00000215582.6	+	2	488	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCTGGATGCTGGGGACGCTGA	0.687000													14	10					0	0	0.000308642	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075167	86075167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:86075167G>A	ENST00000377332.3	-	4	587	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.P132L|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.P137L	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	160					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAAAAGGAGGATCGTACTT	0.512000													68	106					0	0	0.000781405	0	0
PTPRB	5787	broad.mit.edu	37	12	70918314	70918314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:70918314G>A	ENST00000334414.6	-	33	6606	c.6562C>T	c.(6562-6564)Cgg>Tgg	p.R2188W	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1970W|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1880W|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1880W|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1880W|PTPRB_ENST00000550358.1_Missense_Mutation_p.R2100W|RP11-588H23.3_ENST00000549359.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1970					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTTCACTCCGTAGCTTTCTT	0.438000													13	17					0	0	0.000308642	0	0
S100A9	6280	broad.mit.edu	37	1	153330863	153330863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:153330863G>A	ENST00000368738.3	+	2	147	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	35	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAACCAGGGGGAATTCAAA	0.517000													14	29					0	0	0.000308642	0	0
NEU2	4759	broad.mit.edu	37	2	233899231	233899231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:233899231G>A	ENST00000233840.3	+	2	607	c.607G>A	c.(607-609)Ggg>Agg	p.G203R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	203							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCATGACCATGGGCGCACGTG	0.667000													20	29					0	0	0.00188189	0	0
NIN	51199	broad.mit.edu	37	14	51226703	51226703	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:51226703G>A	ENST00000245441.5	-	17	2461	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	NIN_ENST00000389868.3_Silent_p.G757G|NIN_ENST00000530997.2_Silent_p.G757G|NIN_ENST00000382043.4_Silent_p.G757G|NIN_ENST00000453196.1_Silent_p.G757G|NIN_ENST00000382041.3_Silent_p.G757G|NIN_ENST00000324330.9_Silent_p.G757G	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	757					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTGAGTCAAGCCTCTCACCT	0.512000			T	PDGFRB	MPD								34	76					0	0	0.000692331	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248955	140248955	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140248955G>A	ENST00000398640.2	+	1	267	c.267G>A	c.(265-267)cgG>cgA	p.R89R	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTCTCGGATCGACCGCG	0.592000													95	148					0	0	0.000781405	0	0
GPI	2821	broad.mit.edu	37	19	34884842	34884842	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:34884842C>T	ENST00000415930.3	+	12	1136	c.966C>T	c.(964-966)ccC>ccT	p.P322P	GPI_ENST00000356487.5_Silent_p.P311P|GPI_ENST00000586425.1_Silent_p.P311P	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	311					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCACGACGCCCCTGGAGAAGA	0.617000													39	75					0	0	0.0025221	0	0
MAPK3	5595	broad.mit.edu	37	16	30133240	30133240	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:30133240G>A	ENST00000403394.1	-	2	357	c.258C>T	c.(256-258)ctC>ctT	p.L86L	MAPK3_ENST00000395202.1_Silent_p.L86L|MAPK3_ENST00000263025.4_Silent_p.L86L|MAPK3_ENST00000395200.1_Silent_p.L57L|MAPK3_ENST00000395199.3_Silent_p.L86L|MAPK3_ENST00000322266.5_Silent_p.L86L|MAPK3_ENST00000484663.1_5'UTR	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	86	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGATCTCCCGGAGCGTGCGCT	0.602000													11	21					0	0	0.000978159	0	0
OR51I1	390063	broad.mit.edu	37	11	5462122	5462122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5462122G>A	ENST00000380211.1	-	1	622	c.623C>T	c.(622-624)aCc>aTc	p.T208I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACCATAGGTAAAAATGAT	0.453000													6	6					0	0	0.00116845	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455867	234455867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:234455867G>A	ENST00000366618.3	+	7	1316	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G322R	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	322					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ATTAAATTTTGGAATTGCCGT	0.403000													20	87					0	0	0.00278032	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882998	228882998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:228882998C>T	ENST00000392056.3	-	7	2618	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E858K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	858						cytoplasm	protein binding	p.E858*(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTGTCCTTCGGAAGAGGCT	0.488000													33	54					0	0	0.0024448	0	0
KCNH7	90134	broad.mit.edu	37	2	163236418	163236418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163236418G>A	ENST00000332142.5	-	14	3175	c.3076C>T	c.(3076-3078)Ctc>Ttc	p.L1026F		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1026					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCGTAGGTGAGGTCGCTTTCG	0.512000													30	50					0	0	0.0024448	0	0
FGD5	152273	broad.mit.edu	37	3	14905750	14905750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:14905750C>T	ENST00000285046.5	+	2	2751	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	FGD5_ENST00000543601.1_Missense_Mutation_p.P640S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	881					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P881T(1)|p.P640T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCAAGAGACCCCAGTGTCAC	0.587000													23	40					0	0	0.00106085	0	0
NEURL4	84461	broad.mit.edu	37	17	7227268	7227268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:7227268G>A	ENST00000399464.2	-	12	2141	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S687F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S709F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCCCTGAGGACGGAGAGCT	0.617000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	13					0	0	0.00278032	0	0
PLD1	5337	broad.mit.edu	37	3	171395396	171395396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:171395396G>A	ENST00000342215.6	-	15	1743	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000351298.4_Silent_p.F652F|PLD1_ENST00000340989.4_Silent_p.F652F			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F652F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448000													29	45					0	0	0.00209593	0	0
CFTR	1080	broad.mit.edu	37	7	117174389	117174389	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:117174389C>T	ENST00000003084.6	+	5	681	c.549C>T	c.(547-549)ctC>ctT	p.L183L	CFTR_ENST00000454343.1_Silent_p.L183L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	183	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGTTAGTCTCCTTTCCAACA	0.303000									Cystic Fibrosis				16	30					0	0	0.000958276	0	0
COL3A1	1281	broad.mit.edu	37	2	189871160	189871160	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:189871160T>G	ENST00000304636.3	+	43	3353	c.3183T>G	c.(3181-3183)agT>agG	p.S1061R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1061	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGAAAGAGTGGTGACAGAG	0.498000													12	36					0	0	0.00136819	0	0
NPY5R	4889	broad.mit.edu	37	4	164272452	164272452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:164272452G>A	ENST00000515560.1	+	4	2549	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	NPY5R_ENST00000338566.3_Missense_Mutation_p.E343K|NPY5R_ENST00000506953.1_Missense_Mutation_p.E343K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	343					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACCTGAAGAAAATTCAGA	0.373000													19	26					0	0	0.00074312	0	0
ANKRD27	84079	broad.mit.edu	37	19	33119636	33119636	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:33119636G>A	ENST00000306065.4	-	14	1487	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	443					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACCCAGAGACGAGTTTCTCAC	0.527000													33	48					0	0	0.00170553	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226491	24226491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:24226491G>A	ENST00000345044.6	+	11	1433	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	SLC2A11_ENST00000398356.2_Missense_Mutation_p.G396R|SLC2A11_ENST00000316185.8_Missense_Mutation_p.G392R|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	389						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCTTCTAGCCGGAGTGACGGG	0.672000													9	15					0	0	0.000442599	0	0
TMEM208	29100	broad.mit.edu	37	16	67262721	67262721	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:67262721A>G	ENST00000563953.1	+	5	537	c.111A>G	c.(109-111)ctA>ctG	p.L37L	TMEM208_ENST00000304800.9_Silent_p.L107L|TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000565201.1_Silent_p.L107L			Q9BTX3	TM208_HUMAN	transmembrane protein 208	107						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ATGTGATCCTACTGACAGCCA	0.527000													33	55					0	0	0.000953801	0	0
MIR381HG	378881	broad.mit.edu	37	14	101513721	101513721	+	RNA	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:101513721T>C	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA																							ACAAGGACAATTTCTTTTTGA	0.478000													24	35					0	0	0.000586117	0	0
OTOGL	283310	broad.mit.edu	37	12	80765831	80765831	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:80765831C>T	ENST00000458043.2	+	56	6747	c.6741C>T	c.(6739-6741)ggC>ggT	p.G2247G	OTOGL_ENST00000546620.1_Silent_p.G266G|OTOGL_ENST00000547103.1_Silent_p.G2235G	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATAATGAAGGCTGTTGCAAGA	0.313000													8	18					0	0	0.000978159	0	0
CNGA3	1261	broad.mit.edu	37	2	98996720	98996720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:98996720G>A	ENST00000393504.1	+	4	715	c.298G>A	c.(298-300)Gat>Aat	p.D100N	CNGA3_ENST00000409937.1_Missense_Mutation_p.D104N|CNGA3_ENST00000272602.2_Missense_Mutation_p.D100N|CNGA3_ENST00000436404.2_Missense_Mutation_p.D100N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	100					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTCTTTTCCTGATCGTTTCCG	0.597000													30	39					0	0	0.00283554	0	0
LOC440040	440040	broad.mit.edu	37	11	49597758	49597758	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:49597758C>T	ENST00000527477.1	+	0	362																											TGAATTTTCCCCACCATGCTA	0.443000													5	3					0	0	0.000602214	0	0
CASR	846	broad.mit.edu	37	3	122003187	122003187	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:122003187A>T	ENST00000498619.1	+	7	2854	c.2416A>T	c.(2416-2418)Aag>Tag	p.K806*	CASR_ENST00000296154.5_Nonsense_Mutation_p.K796*|CASR_ENST00000490131.1_Nonsense_Mutation_p.K796*	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	796			F -> S (in FIH; mild shift of the concentration-response curve to tne left but the change in EC(50) does not reach statistical significance).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGTCCCGGAAGCTGCCGGA	0.552000													11	30					0	0	0.000978159	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652297	165652297	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:165652297G>A	ENST00000354775.4	-	3	682	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ALDH9A1_ENST00000538148.1_Silent_p.S32S|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	102					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CCTCAAAGATGGACTTGCCAT	0.473000													60	37					0	0	0.000781405	0	0
OR10H1	26539	broad.mit.edu	37	19	15918036	15918036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:15918036C>T	ENST00000334920.2	-	1	900	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAAGGTGTCTCCTTCCAGAGA	0.557000													16	16					0	0	0.000566183	0	0
SUCLA2	8803	broad.mit.edu	37	13	48523624	48523624	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:48523624A>G	ENST00000378654.3	-	9	1278	c.1222T>C	c.(1222-1224)Tta>Cta	p.L408L	SUCLA2_ENST00000544100.1_Silent_p.L274L|SUCLA2_ENST00000543413.1_Silent_p.L350L|SUCLA2_ENST00000534875.1_Silent_p.L350L	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	408					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TCACCTTGTAACCGTACCACA	0.353000													14	31					0	0	0.00074312	0	0
MXRA5	25878	broad.mit.edu	37	X	3228200	3228200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:3228200G>A	ENST00000217939.6	-	7	8198	c.8044C>T	c.(8044-8046)Ccc>Tcc	p.P2682S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2682	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGTTTGGGGGCCCTCCAGA	0.607000													17	6					0	0	0.00152264	0	0
STRN4	29888	broad.mit.edu	37	19	47232010	47232010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:47232010C>T	ENST00000391910.3	-	7	1354	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	STRN4_ENST00000539396.1_Missense_Mutation_p.E183K|STRN4_ENST00000263280.6_Missense_Mutation_p.E302K|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	302						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCTTCCATTTCGGGCACCAGA	0.567000													39	67					0	0	0.000781405	0	0
NUP214	8021	broad.mit.edu	37	9	134072702	134072702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:134072702C>T	ENST00000359428.5	+	29	3965	c.3821C>T	c.(3820-3822)cCc>cTc	p.P1274L	NUP214_ENST00000411637.2_Missense_Mutation_p.P1264L|NUP214_ENST00000451030.1_Missense_Mutation_p.P1275L|NUP214_ENST00000483497.2_Missense_Mutation_p.P100L|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1274	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCTCACCTCCCTCAGGAATC	0.557000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								25	34					0	0	0.000586117	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340081	5340081	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:5340081G>T	ENST00000396872.2	+	10	1399	c.1238G>T	c.(1237-1239)cGg>cTg	p.R413L	SLC29A4_ENST00000406453.3_Missense_Mutation_p.R399L|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R413L	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	413					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GTGGACTGGCGGGGCACCCAC	0.706000													5	63					0.000602214	0.00227293	0.000602214	1	0
CTNNB1	1499	broad.mit.edu	37	3	41275738	41275738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:41275738C>T	ENST00000349496.5	+	10	1913	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.Q545*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.Q538*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.Q545*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.Q545*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	545					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCGTGCACATCAGGATACCCA	0.478000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				18	25					0	0	0.000566183	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629337	9629337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:9629337G>A	ENST00000382492.2	-	1	1126	c.808C>T	c.(808-810)Cct>Tct	p.P270S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	270					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTCCAGAAGGGTATATACCA	0.373000													38	63					0	0	0.0025221	0	0
CLK1	1195	broad.mit.edu	37	2	201718717	201718717	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:201718717C>T	ENST00000434813.2	-	12	1681		c.e12-1		CLK1_ENST00000321356.4_Splice_Site|CLK1_ENST00000409769.2_Splice_Site	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTACGTTTCCTAAAAATAAG	0.368000													29	45					0	0	0.001512	0	0
USP29	57663	broad.mit.edu	37	19	57642498	57642498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57642498C>T	ENST00000254181.4	+	4	2909	c.2455C>T	c.(2455-2457)Cct>Tct	p.P819S	USP29_ENST00000598197.1_Missense_Mutation_p.P819S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	819					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATGGGGGATCCTCTCCAGGC	0.483000													12	30					0	0	0.000308642	0	0
CCDC147	159686	broad.mit.edu	37	10	106153215	106153215	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106153215G>A	ENST00000369704.3	+	11	1790	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	552										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAATAGAAAAGGAAAAGGAAA	0.473000													10	10					0	0	0.000673444	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212561	81212561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:81212561G>A	ENST00000394685.3	+	15	2343	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D642N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D642N			Q8WUJ3	K1199_HUMAN	KIAA1199	642										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTCCCCTCGGACCGTGACAG	0.572000													12	28					0	0	0.000978159	0	0
LTF	4057	broad.mit.edu	37	3	46479494	46479494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46479494C>T	ENST00000231751.4	-	16	2330	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	LTF_ENST00000417439.1_Missense_Mutation_p.E677K|LTF_ENST00000426532.2_Missense_Mutation_p.E635K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	679	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.E679K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAATATTTTTCATATGTTGTT	0.453000													60	117					0	0	0.000781405	0	0
DENND1B	163486	broad.mit.edu	37	1	197614842	197614842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197614842C>T	ENST00000235453.4	-	9	726	c.449G>A	c.(448-450)gGa>gAa	p.G150E	DENND1B_ENST00000367396.3_Missense_Mutation_p.G180E|DENND1B_ENST00000400967.2_Missense_Mutation_p.G150E			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	180	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGTTGGGAGTCCAGTTACATC	0.279000													10	19					0	0	0.00136819	0	0
OR8H3	390152	broad.mit.edu	37	11	55890025	55890025	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55890025C>T	ENST00000313472.3	+	1	177	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTCACACTCCCATGTATTTTT	0.413000													31	103					0	0	0.000953801	0	0
DLG2	1740	broad.mit.edu	37	11	83243803	83243803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:83243803C>T	ENST00000398309.2	-	16	2296	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R714Q|DLG2_ENST00000376106.3_Missense_Mutation_p.R91Q|DLG2_ENST00000426717.2_Missense_Mutation_p.R91Q|DLG2_ENST00000537455.1_Missense_Mutation_p.R363Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R714Q|DLG2_ENST00000404783.3_Missense_Mutation_p.R91Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R609Q|DLG2_ENST00000530800.1_Missense_Mutation_p.R118Q|DLG2_ENST00000531015.1_Missense_Mutation_p.R576Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R648Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R548Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R506Q|DLG2_ENST00000398304.1_Missense_Mutation_p.R91Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R609Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	609						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTCTTCAATCGGGCACGTTC	0.398000													17	29					0	0	0.00121646	0	0
HARS	3035	broad.mit.edu	37	5	140056670	140056670	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140056670C>T	ENST00000504366.1	-	8	2467	c.648G>A	c.(646-648)caG>caA	p.Q216Q	HARS_ENST00000415192.2_Silent_p.Q211Q|HARS_ENST00000431330.2_Silent_p.Q171Q|HARS_ENST00000438307.2_Silent_p.Q245Q|HARS_ENST00000448240.1_Silent_p.Q90Q|HARS_ENST00000504156.1_Silent_p.Q285Q|HARS_ENST00000307633.3_Silent_p.Q225Q|HARS_ENST00000457527.2_Silent_p.Q265Q			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	285					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTTTAGGATCCTGGAGCAGCT	0.507000													85	141					0	0	0.000781405	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819254	159819254	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:159819254C>T	ENST00000497452.1	-	0	517																											TGTACTAATGCCATGATTTAC	0.358000													57	89					0	0	0.000781405	0	0
SLC2A7	155184	broad.mit.edu	37	1	9073680	9073680	+	Silent	SNP	C	C	T	rs146907896		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:9073680C>T	ENST00000400906.1	-	8	917	c.918G>A	c.(916-918)gcG>gcA	p.A306A		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	306						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGGTGTCCGCATAGTAGT	0.532000													19	22					0	0	0.00188189	0	0
ACACB	32	broad.mit.edu	37	12	109660704	109660704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109660704C>T	ENST00000338432.7	+	26	3898	c.3779C>T	c.(3778-3780)cCc>cTc	p.P1260L	ACACB_ENST00000377854.5_Missense_Mutation_p.P1190L|ACACB_ENST00000377848.3_Missense_Mutation_p.P1260L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1260					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGTTCTGCCCCGAGAACCTC	0.602000													5	13					0	0	0.000602214	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731332	140731332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140731332C>T	ENST00000523390.1	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTACGTGTCCGTGAGCCCG	0.662000													14	30					0	0	0.000308642	0	0
ZNF208	7757	broad.mit.edu	37	19	22155441	22155441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:22155441G>A	ENST00000397126.4	-	4	2543	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATCAGTATGAATTCTCTTA	0.358000													11	18					0	0	0.00136819	0	0
C6orf201	404220	broad.mit.edu	37	6	4099236	4099236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:4099236G>A	ENST00000380175.4	+	3	853	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Missense_Mutation_p.E33K|C6orf201_ENST00000430835.2_Missense_Mutation_p.E30K	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	30								p.E30K(1)		central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATTACCAGGTGAGAATCCTGA	0.403000													14	18					0	0	0.00244969	0	0
SEC16B	89866	broad.mit.edu	37	1	177911075	177911075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177911075C>T	ENST00000308284.6	-	16	2071	c.1982G>A	c.(1981-1983)gGa>gAa	p.G661E	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	661					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACTGCTCTCTCCCTGGCTCAA	0.493000													24	86					0	0	0.000586117	0	0
LCA5	167691	broad.mit.edu	37	6	80223146	80223146	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:80223146A>T	ENST00000392959.1	-	4	1114	c.503T>A	c.(502-504)aTt>aAt	p.I168N	LCA5_ENST00000467898.2_Missense_Mutation_p.I168N|LCA5_ENST00000369846.4_Missense_Mutation_p.I168N	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	168					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GAGTGCTGTAATCTCATTGTT	0.353000													37	13					0	0	0.00111076	0	0
CFB	629	broad.mit.edu	37	6	31915831	31915831	+	Silent	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:31915831A>G	ENST00000456570.1	+	18	2431	c.2376A>G	c.(2374-2376)aaA>aaG	p.K792K	CFB_ENST00000477310.1_Silent_p.K641K|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.K290K|CFB_ENST00000556679.1_Silent_p.K792K			P00751	CFAB_HUMAN	complement factor B	290					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGGAGCCAAAAAGTGTCTAG	0.502000													73	112					0	0	0.000781405	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													14	55					0	0	0.00074312	0	0
EPHA6	285220	broad.mit.edu	37	3	96962891	96962891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96962891G>A	ENST00000389672.5	+	5	1404	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	EPHA6_ENST00000470610.2_Missense_Mutation_p.D456N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	361	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGGGAGAAAAGATCTCACATA	0.478000													9	6					0	0	0.000442599	0	0
EP400	57634	broad.mit.edu	37	12	132502894	132502894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132502894C>T	ENST00000333577.4	+	22	4467	c.4358C>T	c.(4357-4359)cCa>cTa	p.P1453L	EP400_ENST00000389561.2_Missense_Mutation_p.P1417L|EP400_ENST00000332482.4_Missense_Mutation_p.P1380L|EP400_ENST00000330386.6_Missense_Mutation_p.P1417L|EP400_ENST00000389562.2_Missense_Mutation_p.P1416L			Q96L91	EP400_HUMAN	E1A binding protein p400	1453					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCCCGACCAGCAGCAGCA	0.592000													15	38					0	0	0.000566183	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657072	42657072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:42657072G>A	ENST00000372572.1	-	11	1564	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	FOXJ3_ENST00000545068.1_Missense_Mutation_p.P418L|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P384L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P418L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P418L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	418					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGGAGAGGGATGCTGGGG	0.577000													25	36					0	0	0.000720815	0	0
GRIA4	2893	broad.mit.edu	37	11	105850336	105850336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:105850336G>A	ENST00000282499.5	+	17	3025	c.2579G>A	c.(2578-2580)aGa>aAa	p.R860K	GRIA4_ENST00000530497.1_Missense_Mutation_p.R860K|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000525187.1_3'UTR	NM_000829.3	NP_000820.3	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	860					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AACAAAGCCAGATTATCCATC	0.473000													40	59					0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57829230	57829230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57829230C>T	ENST00000371030.2	+	5	4466	c.4466C>T	c.(4465-4467)tCt>tTt	p.S1489F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1489						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATTGCTACCTCTGTGGCTGCC	0.493000													30	112					0	0	0.00283554	0	0
KLHL4	56062	broad.mit.edu	37	X	86890673	86890673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:86890673G>A	ENST00000373119.4	+	9	1968	c.1823G>A	c.(1822-1824)gGa>gAa	p.G608E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G608E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	608						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAAGACGTGGAGGTGTGGGA	0.478000													21	5					0	0	0.00152264	0	0
CDC25A	993	broad.mit.edu	37	3	48200940	48200940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:48200940C>T	ENST00000302506.3	-	14	1736	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	CDC25A_ENST00000351231.3_Missense_Mutation_p.R403Q	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	443	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTCACATACCGGCACCTAGT	0.512000													16	22					0	0	0.000422831	0	0
SPERT	220082	broad.mit.edu	37	13	46276538	46276538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:46276538G>A	ENST00000310521.1	+	1	93	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	5						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GTCACCTCTGGAATGTTCTGA	0.433000													58	100					0	0	0.000781405	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147758	100147758	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:100147758G>A	ENST00000231461.5	-	5	1183	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	291					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.F291L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTTCATCACAGAATCTTGTGG	0.363000													36	48					0	0	0.00111076	0	0
LGR5	8549	broad.mit.edu	37	12	71977897	71977897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:71977897G>A	ENST00000266674.5	+	18	2418	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S	LGR5_ENST00000540815.2_Missense_Mutation_p.G679S|LGR5_ENST00000536515.1_Missense_Mutation_p.G631S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	703						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGCTGGGTGGCAGCAAGTA	0.537000													125	178					0	0	0.000781405	0	0
PHF6	84295	broad.mit.edu	37	X	133551252	133551252	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:133551252C>T	ENST00000332070.3	+	9	1090	c.888C>T	c.(886-888)gcC>gcT	p.A296A	PHF6_ENST00000394292.1_Silent_p.A297A|PHF6_ENST00000370803.3_Silent_p.A296A|PHF6_ENST00000370799.1_Silent_p.A297A|PHF6_ENST00000416404.2_Silent_p.A262A	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AAATAAAAGCCTGTGTTAAGA	0.353000			"""F, N, Splice, Mis"""		ETP ALL								37	10					0	0	0.00128727	0	0
SEC16B	89866	broad.mit.edu	37	1	177906553	177906553	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177906553G>A	ENST00000308284.6	-	19	2388	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	767					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCTGGAGCAGGCAGGTCTGC	0.602000													4	16					0	0	0.00024832	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:156643314G>A	ENST00000296518.7	+	9	2050	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R356Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000													11	26					0	0	0.000978159	0	0
C20orf24	55969	broad.mit.edu	37	20	35238087	35238087	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:35238087G>T	ENST00000344795.3	+	3	520	c.302G>T	c.(301-303)tGg>tTg	p.W101L	C20orf24_ENST00000373852.5_Missense_Mutation_p.W101L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.W127L|C20orf24_ENST00000342422.3_Intron	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGTGGCACGTGGGAGCTCACG	0.448000													9	286					0.000442599	0.00167278	0.000442599	1	0
NOS3	4846	broad.mit.edu	37	7	150698429	150698429	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:150698429C>T	ENST00000297494.3	+	11	1701	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	NOS3_ENST00000461406.1_Silent_p.I242I|NOS3_ENST00000467517.1_Silent_p.I448I|NOS3_ENST00000484524.1_Silent_p.I448I	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	448	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.I448I(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCCTGGATCGTGCCCCCCA	0.622000													24	40					0	0	0.00278032	0	0
PUM1	9698	broad.mit.edu	37	1	31425183	31425183	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:31425183G>A	ENST00000373747.3	-	16	2721	c.2622C>T	c.(2620-2622)gcC>gcT	p.A874A	PUM1_ENST00000426105.2_Silent_p.A873A|PUM1_ENST00000440538.2_Silent_p.A847A|PUM1_ENST00000424085.2_Silent_p.A631A|PUM1_ENST00000257075.5_Silent_p.A873A|PUM1_ENST00000373741.4_Silent_p.A909A|PUM1_ENST00000373742.2_Silent_p.A814A|PUM1_ENST00000423018.2_Silent_p.A729A	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	873	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCTGGTGTGGCACGCTCCA	0.463000													17	31					0	0	0.00121646	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055757	72055757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:72055757G>A	ENST00000555818.1	+	2	1516	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E390K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E390K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	390					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGCAGCACAGAGGACCTGAA	0.512000													18	28					0	0	0.000958276	0	0
CACNA1A	773	broad.mit.edu	37	19	13423558	13423558	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13423558G>A	ENST00000360228.5	-	12	1592	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	CACNA1A_ENST00000573710.2_Silent_p.S532S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	532					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TAAACATTTCGGACATAAAGA	0.458000													29	57					0	0	0.00209593	0	0
NLRP13	126204	broad.mit.edu	37	19	56423734	56423734	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56423734G>A	ENST00000588751.1	-	5	1473	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	NLRP13_ENST00000342929.3_Silent_p.L483L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	483	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAGACTGCAGAGGGCCCTCC	0.488000													26	34					0	0	0.000720815	0	0
NLRP9	338321	broad.mit.edu	37	19	56244125	56244125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56244125C>T	ENST00000332836.2	-	2	1099	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	358	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGTTTATTTCAAGGTCTTCT	0.438000													36	59					0	0	0.00148497	0	0
PTPN5	84867	broad.mit.edu	37	11	18765740	18765740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:18765740G>A	ENST00000396170.1	-	4	1368	c.104C>T	c.(103-105)cCc>cTc	p.P35L	PTPN5_ENST00000396167.2_Missense_Mutation_p.P35L|PTPN5_ENST00000358540.2_Missense_Mutation_p.P35L|PTPN5_ENST00000396171.4_Missense_Mutation_p.P35L|PTPN5_ENST00000396168.1_Missense_Mutation_p.P11L|PTPN5_ENST00000496201.2_5'UTR	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	35						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TATCGGCTGGGGGAGACCTGT	0.657000													28	59					0	0	0.00106085	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708269	36708269	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:36708269G>A	ENST00000264659.7	-	14	2804	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	SRCIN1_ENST00000578925.1_Silent_p.F894F|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	732	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTGGCATTTCGAAGTCCACGC	0.622000													29	54					0	0	0.000814825	0	0
TEKT5	146279	broad.mit.edu	37	16	10788375	10788375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:10788375G>A	ENST00000283025.2	-	1	427	c.356C>T	c.(355-357)tCc>tTc	p.S119F		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	119					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAGCCTCATGGAGTCATCCGT	0.652000													35	61					0	0	0.000814825	0	0
PRODH2	58510	broad.mit.edu	37	19	36303125	36303125	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36303125G>A	ENST00000301175.3	-	4	666	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	217					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCGTGACAGGTCCACACAC	0.652000													16	14					0	0	0.000566183	0	0
FAM47B	170062	broad.mit.edu	37	X	34961468	34961468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:34961468G>A	ENST00000329357.5	+	1	556	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	174										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAAGACAACCGAGGTACCCAC	0.607000													15	3					0	0	0.00244969	0	0
DNAH5	1767	broad.mit.edu	37	5	13793641	13793641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13793641G>A	ENST00000265104.4	-	49	8311	c.8207C>T	c.(8206-8208)tCt>tTt	p.S2736F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2736	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCACAGAAGCTTCAGA	0.483000									Kartagener syndrome				28	34					0	0	0.00209593	0	0
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:73151427G>A	ENST00000377110.2	-	25	4809	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000377106.1_Silent_p.S1394S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000423814.3_Silent_p.S1549S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1547						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAACATAAAGCTATGAGATT	0.458000													40	55					0	0	0.00222228	0	0
CROCC	9696	broad.mit.edu	37	1	17272860	17272860	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:17272860T>C	ENST00000375541.5	+	16	2312	c.2243T>C	c.(2242-2244)cTt>cCt	p.L748P	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	748					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AACGAGAGCCTTGCTCAGGAC	0.652000													22	59					0	0	0.000878237	0	0
SELP	6403	broad.mit.edu	37	1	169578856	169578856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:169578856G>A	ENST00000263686.6	-	8	1256	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	SELP_ENST00000367794.2_Nonsense_Mutation_p.Q345*|SELP_ENST00000367788.2_Nonsense_Mutation_p.Q345*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Q345*|SELP_ENST00000367786.2_Nonsense_Mutation_p.Q345*|SELP_ENST00000458599.2_Nonsense_Mutation_p.Q345*|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Nonsense_Mutation_p.Q345*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	407	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTGTCATACTGAAACGCTCTC	0.502000													13	32					0	0	0.00244969	0	0
BRINP2	57795	broad.mit.edu	37	1	177199273	177199273	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177199273G>A	ENST00000361539.4	+	2	573	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		87						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCAGGTACAGGATTTATAGGT	0.612000													22	66					0	0	0.000720815	0	0
BAI3	577	broad.mit.edu	37	6	70037717	70037717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:70037717C>T	ENST00000370598.1	+	22	3792	c.2971C>T	c.(2971-2973)Cca>Tca	p.P991S	BAI3_ENST00000238918.8_Missense_Mutation_p.P197S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	991					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCAGGTTTACCAGCATTAGT	0.393000													13	2					0	0	0.00185496	0	0
MCM3AP	8888	broad.mit.edu	37	21	47656757	47656757	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:47656757T>C	ENST00000397708.1	-	28	6024	c.5770A>G	c.(5770-5772)Act>Gct	p.T1924A	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.T1924A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1924					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGCTAGTAGTTACAGATGTT	0.388000													67	72					0	0	0.000781405	0	0
DENND1A	57706	broad.mit.edu	37	9	126520093	126520093	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:126520093A>G	ENST00000373624.2	-	5	392	c.191T>C	c.(190-192)gTt>gCt	p.V64A	DENND1A_ENST00000394215.2_Missense_Mutation_p.V34A|DENND1A_ENST00000373618.1_Missense_Mutation_p.V32A|DENND1A_ENST00000373620.3_Missense_Mutation_p.V64A|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.V32A	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	64	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AACTTGGCTAACTGTGAGGCT	0.438000													6	25					0	0	0.000274275	0	0
GPR113	165082	broad.mit.edu	37	2	26534031	26534031	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:26534031G>A	ENST00000333478.6	-	8	2550	c.1968C>T	c.(1966-1968)acC>acT	p.T656T	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.T786T|GPR113_ENST00000311519.1_Silent_p.T855T|GPR113_ENST00000541401.1_Silent_p.T458T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	855					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAAAAAGGTGGCCAGGT	0.617000													4	7					0	0	0.00024832	0	0
SEC23B	10483	broad.mit.edu	37	20	18507066	18507066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:18507066C>T	ENST00000336714.3	+	8	1316	c.884C>T	c.(883-885)cCc>cTc	p.P295L	SEC23B_ENST00000377475.3_Missense_Mutation_p.P295L|SEC23B_ENST00000377465.1_Missense_Mutation_p.P295L|SEC23B_ENST00000262544.2_Missense_Mutation_p.P295L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	295					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ACTGGAGGTCCCCCTACCCAA	0.438000													20	24					0	0	0.000958276	0	0
SCN1A	6323	broad.mit.edu	37	2	166901660	166901660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:166901660C>T	ENST00000423058.2	-	10	1572	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E519K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E519K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E519K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	519						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTTGGAATTCATCCTCATCT	0.438000													49	78					0	0	0.000781405	0	0
HMX3	340784	broad.mit.edu	37	10	124896586	124896586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:124896586C>T	ENST00000357878.5	+	2	502	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	138					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		TCGGAGAAGGCCTTGCTGAGA	0.672000													7	4					0	0	0.000274275	0	0
USH2A	7399	broad.mit.edu	37	1	215808037	215808037	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:215808037G>A	ENST00000366943.2	-	70	15447	c.15061C>T	c.(15061-15063)Cta>Tta	p.L5021L	USH2A_ENST00000307340.3_Silent_p.L5021L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5021					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGTTGTTAGGACCAAGCCT	0.443000										HNSCC(13;0.011)			28	75					0	0	0.0024448	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671818	77671818	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:77671818G>A	ENST00000407578.2	-	56	9737	c.9471C>T	c.(9469-9471)ccC>ccT	p.P3157P	MYCBP2_ENST00000357337.6_Silent_p.P3119P|MYCBP2_ENST00000544440.2_Silent_p.P3119P|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3119	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAAAGTTAAGGGAAGAGGAG	0.408000													8	10					0	0	0.000673444	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416524	69416524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:69416524G>A	ENST00000317746.2	-	5	1226	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	395					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGCAAACAAGGGAATGCCCAC	0.458000													10	46					0	0	0.000978159	0	0
GEMIN5	25929	broad.mit.edu	37	5	154316593	154316593	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:154316593G>C	ENST00000285873.7	-	2	394	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	107					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCTGATGGAGTGCATGTTCT	0.463000													39	85					0	0	0.00195071	0	0
SSPO	23145	broad.mit.edu	37	7	149519198	149519198	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:149519198C>T	ENST00000378016.2	+	0	13002							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGTCCTGCCCCTGCCTGA	0.711000													17	32					0	0	0.00074312	0	0
MED24	9862	broad.mit.edu	37	17	38183177	38183177	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:38183177G>A	ENST00000394126.1	-	16	2134	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	MED24_ENST00000501516.3_Silent_p.F566F|MED24_ENST00000394127.2_Silent_p.F534F|MED24_ENST00000394128.2_Silent_p.F547F|MED24_ENST00000356271.3_Silent_p.F534F			O75448	MED24_HUMAN	mediator complex subunit 24	547					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AGTCGGGGCGGAAGCAGGGGT	0.637000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	45					0	0	0.000157383	0	0
BRINP2	57795	broad.mit.edu	37	1	177245527	177245527	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177245527C>T	ENST00000361539.4	+	6	1281	c.969C>T	c.(967-969)atC>atT	p.I323I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		323						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCTGCAGATCCAGGACTCCT	0.572000													10	40					0	0	0.000673444	0	0
DGAT2	84649	broad.mit.edu	37	11	75495679	75495679	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:75495679C>T	ENST00000228027.7	+	2	398	c.138C>T	c.(136-138)atC>atT	p.I46I	DGAT2_ENST00000376262.3_Intron	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	46					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GATCCAGCATCCTCTCCGCCC	0.567000													28	38					0	0	0.0024448	0	0
BRINP1	1620	broad.mit.edu	37	9	121930245	121930245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:121930245G>A	ENST00000265922.3	-	8	1864	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		468					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTCCGCTCCGAGTCCACGTT	0.587000													18	17					0	0	0.00152264	0	0
SYT10	341359	broad.mit.edu	37	12	33559748	33559748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33559748C>T	ENST00000228567.3	-	3	1349	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.W170*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	351						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAATATCTTTCCATACTGTGG	0.333000													13	27					0	0	0.00244969	0	0
GDF2	2658	broad.mit.edu	37	10	48416538	48416538	+	Silent	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:48416538G>C	ENST00000249598.1	-	1	315	c.156C>G	c.(154-156)acC>acG	p.T52T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	52					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCAGGTTGAAGGTGTGCTCAG	0.622000													17	21					0	0	0.00121646	0	0
FGA	2243	broad.mit.edu	37	4	155505343	155505343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:155505343G>A	ENST00000302053.3	-	6	2612	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	845	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCTCTAAAGGAAACCCAGAC	0.493000													26	46					0	0	0.000878237	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356649	99356649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:99356649C>T	ENST00000376503.5	-	17	1365	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	437					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AATGTTTATCCTTGTCAGTTT	0.453000													24	54					0	0	0.00047179	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137218	64137218	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:64137218C>T	ENST00000528057.1	+	14	1717	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.I550I	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	550	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TGAAAATCATCGACTTCGGGT	0.716000													10	8					0	0	0.000442599	0	0
HCN4	10021	broad.mit.edu	37	15	73622049	73622049	+	Silent	SNP	C	C	G	rs148875639	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:73622049C>G	ENST00000261917.3	-	4	2448	c.1455G>C	c.(1453-1455)gcG>gcC	p.A485A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	485					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGCCCACGGGCGCCTGCCGCC	0.617000													11	20					0	0	0.000978159	0	0
CPT1B	1375	broad.mit.edu	37	22	51011432	51011432	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:51011432G>A	ENST00000360719.2	-	11	1361	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	CPT1B_ENST00000405237.3_Silent_p.A408A|CPT1B_ENST00000395650.2_Silent_p.A408A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Silent_p.A374A|CPT1B_ENST00000434492.2_Silent_p.A205A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Silent_p.A408A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	408					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGCCTCCAAGGCAGCCTTAT	0.602000													22	38					0	0	0.00152264	0	0
CACNA1E	777	broad.mit.edu	37	1	181767462	181767462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181767462C>T	ENST00000526775.1	+	46	6413	c.6248C>T	c.(6247-6249)tCt>tTt	p.S2083F	CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2145F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2126F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2096F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2034F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1709F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2102F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2145					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCATCCCCTCTGTCTCTGAC	0.572000													44	121					0	0	0.000781405	0	0
ZNF501	115560	broad.mit.edu	37	3	44776471	44776471	+	Silent	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:44776471A>T	ENST00000396048.2	+	3	995	c.558A>T	c.(556-558)ggA>ggT	p.G186G		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTCATTCAGGAGAGAAGCCCT	0.408000													19	27					0	0	0.000958276	0	0
BIRC6	57448	broad.mit.edu	37	2	32689721	32689721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:32689721C>T	ENST00000421745.2	+	25	5220	c.5086C>T	c.(5086-5088)Ccc>Tcc	p.P1696S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1696					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTATTCCACCCACTCCAAA	0.488000													16	35					0	0	0.00074312	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493269	73493269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73493269C>T	ENST00000314256.7	+	26	3791	c.3397C>T	c.(3397-3399)Cct>Tct	p.P1133S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P1143S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P784S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1133					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTTTGCTACCCTCTGCTCAG	0.572000													41	43					0	0	0.000781405	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263759	70263759	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:70263759G>A	ENST00000216540.4	-	1	247	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	38					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GCGAGAGCATGATGAAGAACA	0.562000													23	25					0	0	0.00229938	0	0
KIF13A	63971	broad.mit.edu	37	6	17817388	17817388	+	Silent	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:17817388C>G	ENST00000378814.5	-	17	1862	c.1863G>C	c.(1861-1863)cgG>cgC	p.R621R	KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378826.2_Silent_p.R621R|KIF13A_ENST00000378816.5_Silent_p.R621R|KIF13A_ENST00000378843.2_Silent_p.R621R|KIF13A_ENST00000259711.6_Silent_p.R621R	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	621					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATACATGAGCCGCTGCTCCT	0.567000													31	51					0	0	0.00283554	0	0
ASMTL	8623	broad.mit.edu	37	X	1540611	1540611	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:1540611G>A	ENST00000534940.1	-	9	1236	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ASMTL_ENST00000381333.4_Silent_p.I379I|ASMTL_ENST00000381317.3_Silent_p.I395I|ASMTL_ENST00000416733.2_Silent_p.I319I	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	395	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCCTCTCGGATGGCAAACT	0.537000													69	115					0	0	0.000781405	0	0
WDFY3	23001	broad.mit.edu	37	4	85731436	85731436	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:85731436C>A	ENST00000322366.6	-	14	2356	c.1949G>T	c.(1948-1950)gGa>gTa	p.G650V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.G650V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	650						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTACACAAATCCTCCAACTTT	0.418000													9	14					1.12685e-05	4.27058e-05	0.000274275	1	0
POM121	9883	broad.mit.edu	37	7	72412766	72412766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:72412766C>T	ENST00000395270.1	+	14	2480	c.1439C>T	c.(1438-1440)cCg>cTg	p.P480L	POM121_ENST00000358357.3_Missense_Mutation_p.P480L|POM121_ENST00000446813.1_Missense_Mutation_p.P480L|POM121_ENST00000434423.2_Missense_Mutation_p.P745L|POM121_ENST00000257622.4_Missense_Mutation_p.P480L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	745	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCCCCACACCGCCTGGCCCT	0.632000													5	17					0	0	0.000978159	0	0
CD48	962	broad.mit.edu	37	1	160654578	160654578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:160654578C>T	ENST00000368045.3	-	2	523	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CD48_ENST00000368046.3_Intron			P09326	CD48_HUMAN	CD48 molecule	0	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTTTTTCTCTCCTCCTCCCCG	0.502000													9	18					0	0	0.000274275	0	0
C1orf226	400793	broad.mit.edu	37	1	162353118	162353118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:162353118C>T	ENST00000458626.2	+	2	636	c.464C>T	c.(463-465)tCa>tTa	p.S155L	C1orf226_ENST00000426197.2_Missense_Mutation_p.S198L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	155										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						ACAGAGCCATCACCTGGGCAG	0.592000													5	10					0	0	0.000602214	0	0
FAM208B	54906	broad.mit.edu	37	10	5789847	5789847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:5789847G>A	ENST00000328090.5	+	15	5088	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1488																	GATCATCCAGGAAGAACAGGT	0.443000													15	18					0	0	0.000308642	0	0
CSMD3	114788	broad.mit.edu	37	8	113933898	113933898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:113933898C>T	ENST00000297405.5	-	10	1835	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E531K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E491K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	531	Sushi 2.					integral to membrane|plasma membrane		p.E491K(1)|p.E531K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAAAAACTTCAGCTATCCGT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	22					0	0	0.000978159	0	0
AARS2	57505	broad.mit.edu	37	6	44274084	44274084	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:44274084G>A	ENST00000244571.4	-	9	1235	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	411					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCGCTCCAGGGAGGCCAGGA	0.597000													27	36					0	0	0.00127121	0	0
VPS13B	157680	broad.mit.edu	37	8	100865925	100865925	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:100865925G>A	ENST00000358544.2	+	56	10494	c.10383G>A	c.(10381-10383)aaG>aaA	p.K3461K	VPS13B_ENST00000357162.2_Silent_p.K3436K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3461					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTATAACAAGTCCAATTTCC	0.488000													25	40					0	0	0.000720815	0	0
PRDM9	56979	broad.mit.edu	37	5	23518019	23518019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:23518019G>A	ENST00000296682.3	+	5	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	111					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTAAGAGTGGAACAGCGTAA	0.408000										HNSCC(3;0.000094)			57	73					0	0	0.000781405	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711004	140711004	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140711004C>T	ENST00000517417.1	+	1	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PCDHGA1_ENST00000378105.3_Silent_p.V251V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAAATGTCCCCGAAAACG	0.488000													22	35					0	0	0.00278032	0	0
MGAM	8972	broad.mit.edu	37	7	141730237	141730237	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:141730237T>C	ENST00000475668.2	+	11	1351	c.1297T>C	c.(1297-1299)Ttc>Ctc	p.F433L	MGAM_ENST00000549489.2_Missense_Mutation_p.F433L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	433	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTAAAGGCTTCCCTGAATT	0.388000													6	17					0	0	0.000157383	0	0
TEKT5	146279	broad.mit.edu	37	16	10788374	10788374	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:10788374G>A	ENST00000283025.2	-	1	428	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	119					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGAGCCTCATGGAGTCATCCG	0.652000													36	63					0	0	0.000953801	0	0
C10orf88	80007	broad.mit.edu	37	10	124711494	124711494	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:124711494G>A	ENST00000481909.1	-	3	641	c.417C>T	c.(415-417)tcC>tcT	p.S139S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CATGTGTGGAGGACTCCAATT	0.249000													16	28					0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76526587	76526587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:76526587G>A	ENST00000389840.5	-	21	3246	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	DNAH17_ENST00000585328.1_Missense_Mutation_p.S1038F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTCGTAGGAGTCGATCTG	0.632000													111	51					0	0	0.000781405	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045731	47045731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:47045731C>T	ENST00000450053.3	+	37	6225	c.6046C>T	c.(6046-6048)Cag>Tag	p.Q2016*	NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.Q1832*|NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.Q295*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2016							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATCTCCTAGCCAGACTCCCAG	0.607000													41	104					0	0	0.000781405	0	0
RELN	5649	broad.mit.edu	37	7	103294589	103294589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:103294589C>T	ENST00000424685.2	-	13	1664	c.1505G>A	c.(1504-1506)gGa>gAa	p.G502E	RELN_ENST00000428762.1_Missense_Mutation_p.G502E|RELN_ENST00000343529.5_Missense_Mutation_p.G502E			P78509	RELN_HUMAN	reelin	502					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCTTTTCTTCCTTCAATTTT	0.398000													9	26					0	0	0.000978159	0	0
PHF7	51533	broad.mit.edu	37	3	52456886	52456886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:52456886C>T	ENST00000327906.3	+	10	1568	c.908C>T	c.(907-909)gCt>gTt	p.A303V	PHF7_ENST00000478707.1_Missense_Mutation_p.A303V|PHF7_ENST00000347025.2_Missense_Mutation_p.A264V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	303						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGTTCACCTGCTGCAGCCACA	0.577000													40	67					0	0	0.00170553	0	0
ZFP28	140612	broad.mit.edu	37	19	57059204	57059204	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57059204C>T	ENST00000301318.3	+	4	527	c.456C>T	c.(454-456)atC>atT	p.I152I	ZFP28_ENST00000591844.1_Silent_p.I152I|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	152	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I152M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCGATGTGATCTCCTCGTTGG	0.512000													29	54					0	0	0.000692331	0	0
TIE1	7075	broad.mit.edu	37	1	43770717	43770717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:43770717C>T	ENST00000372476.3	+	2	333	c.254C>T	c.(253-255)tCg>tTg	p.S85L	TIE1_ENST00000538015.1_Missense_Mutation_p.S85L|TIE1_ENST00000441333.2_Missense_Mutation_p.S85L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	85	Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCAACGGTTCGCACCAGGTC	0.736000													4	8					0	0	0.00116845	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891775	30891775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:30891775G>A	ENST00000540456.1	-	4	276	c.83C>T	c.(82-84)cCc>cTc	p.P28L	SEC14L4_ENST00000392772.2_Intron|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Intron			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGGGACTTGGGTCTGATGCA	0.587000													4	2					0	0	0.00024832	0	0
FBXL7	23194	broad.mit.edu	37	5	15928140	15928140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:15928140C>T	ENST00000504595.1	+	3	750	c.269C>T	c.(268-270)tCc>tTc	p.S90F	FBXL7_ENST00000329673.7_Missense_Mutation_p.S78F|FBXL7_ENST00000510662.1_Missense_Mutation_p.S43F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	90					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATGGTGCACTCCCCGCCCCCG	0.657000													4	11					0	0	0.000602214	0	0
DARS	1615	broad.mit.edu	37	2	136664915	136664915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:136664915G>A	ENST00000264161.4	-	16	1692	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	DARS_ENST00000537273.1_Missense_Mutation_p.P393S	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	493					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GGATCACGAGGGAACATGGAG	0.403000													12	27					0	0	0.000978159	0	0
PDE5A	8654	broad.mit.edu	37	4	120419758	120419758	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:120419758A>G	ENST00000354960.3	-	21	2945	c.2626T>C	c.(2626-2628)Tga>Cga	p.*876R	PDE5A_ENST00000264805.5_Nonstop_Mutation_p.*834R|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Nonstop_Mutation_p.*824R	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TAGGCCACTCAGTTCCGCTTG	0.473000													9	18					0	0	0.000673444	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012991	75012991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:75012991C>T	ENST00000379727.3	-	7	1576	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	CYP1A1_ENST00000567032.1_Missense_Mutation_p.E460K|CYP1A1_ENST00000395049.4_Missense_Mutation_p.E431K|CYP1A1_ENST00000395048.2_Missense_Mutation_p.E460K			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	460					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCAATGGTCTCACCGATACAC	0.542000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				39	39					0	0	0.00195071	0	0
PKHD1	5314	broad.mit.edu	37	6	51910917	51910917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:51910917G>A	ENST00000371117.3	-	24	2752	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S826F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	826					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGTACCTGGATGTGAAGTC	0.458000													26	34					0	0	0.00127121	0	0
GRID2	2895	broad.mit.edu	37	4	94547532	94547532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:94547532G>A	ENST00000282020.4	+	14	2564	c.2306G>A	c.(2305-2307)gGa>gAa	p.G769E	GRID2_ENST00000510992.1_Missense_Mutation_p.G674E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	769					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCTGATCGGGGATATGGAATT	0.388000													39	57					0	0	0.00222228	0	0
NXF4	55999	broad.mit.edu	37	X	101818438	101818438	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:101818438G>A	ENST00000360035.2	+	0	1028					NR_002216.1															endometrium(2)|lung(8)	10						TCATTGAAAGGAATTTCCCTG	0.443000													17	5					0	0	0.00074312	0	0
TMEM63C	57156	broad.mit.edu	37	14	77718135	77718135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:77718135C>T	ENST00000298351.4	+	22	2186	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	681						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCGGCAGGTTCTCTCCACGCC	0.572000													43	43					0	0	0.000781405	0	0
MYOM3	127294	broad.mit.edu	37	1	24383875	24383875	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:24383875G>A	ENST00000330966.7	-	37	4464	c.4302C>T	c.(4300-4302)ccC>ccT	p.P1434P	MYOM3_ENST00000374434.3_Silent_p.P1431P|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.P324P			Q5VTT5	MYOM3_HUMAN	myomesin 3	1431										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCAGCTCCTTGGGCTCGTCCC	0.577000													20	22					0	0	0.00152264	0	0
OR2T1	26696	broad.mit.edu	37	1	248570329	248570329	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248570329A>C	ENST00000366474.1	+	1	1034	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTAGAAACAAGGATGTGACT	0.512000													42	43					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13901544	13901544	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13901544G>A	ENST00000265104.4	-	14	1973	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	623	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTCCAGCGATGGGAGGCT	0.502000									Kartagener syndrome				10	22					0	0	0.000442599	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076867	73076867	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:73076867G>C	ENST00000263674.3	+	20	6220	c.5870G>C	c.(5869-5871)cGg>cCg	p.R1957P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTGCCCACGGGCACCACTC	0.652000													4	40					0	0	0.00024832	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218738	19218738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19218738C>T	ENST00000318596.7	+	7	684	c.533C>T	c.(532-534)tCg>tTg	p.S178L	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	178					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ATCCGCATCTCGAGAGAAGAG	0.577000													50	83					0	0	0.000781405	0	0
PLXND1	23129	broad.mit.edu	37	3	129278531	129278531	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:129278531G>A	ENST00000393239.1	-	32	5407	c.5229C>T	c.(5227-5229)ttC>ttT	p.F1743F	PLXND1_ENST00000324093.4_Silent_p.F1743F			Q9Y4D7	PLXD1_HUMAN	plexin D1	1743					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTCCTCCAGGAAGTCGAAAA	0.572000													44	46					0	0	0.000781405	0	0
NUCB2	4925	broad.mit.edu	37	11	17316984	17316984	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:17316984C>T	ENST00000529010.1	+	3	333	c.114C>T	c.(112-114)caC>caT	p.H38H	NUCB2_ENST00000458064.2_Silent_p.H38H|NUCB2_ENST00000323688.6_Silent_p.H38H	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	38						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAATATTCACCCTGTGGAAA	0.348000													73	100					0	0	0.000781405	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:8841889C>T	ENST00000324060.2	+	1	574	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000													77	24					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104031812	104031812	+	Missense_Mutation	SNP	G	G	A	rs115145720	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104031812G>A	ENST00000388887.2	+	8	932	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	243	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGTTTACGAAAAATCTGC	0.493000													41	59					0	0	0.000781405	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	96					3.63617e-18	1.39046e-17	0.000781405	1	0
CEACAM20	125931	broad.mit.edu	37	19	45026929	45026929	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45026929G>A	ENST00000454753.1	-	0	763							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATTTCAACAGGATCAGGACC	0.463000													96	137					0	0	0.000781405	0	0
PDZD8	118987	broad.mit.edu	37	10	119044446	119044446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:119044446G>A	ENST00000334464.5	-	5	2037	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	600	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAAGGCAAAGGAACTTTCGCT	0.488000													54	84					0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121728002	121728002	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:121728002C>T	ENST00000452319.1	+	7	939	c.879C>T	c.(877-879)ccC>ccT	p.P293P	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.P293P|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	293					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCATCAACCCCGTGGCCTACC	0.627000													18	22					0	0	0.000586117	0	0
MYPN	84665	broad.mit.edu	37	10	69918341	69918341	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:69918341G>A	ENST00000358913.5	+	7	1904	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	MYPN_ENST00000373675.3_Silent_p.G472G|MYPN_ENST00000354393.2_Silent_p.G197G|MYPN_ENST00000540630.1_Silent_p.G472G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	472	Ig-like 2.|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						ATAGAGAAGGGACTTTAATAG	0.328000													28	43					0	0	0.00106085	0	0
TECR	9524	broad.mit.edu	37	19	14676599	14676599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:14676599G>A	ENST00000600083.1	+	13	1011	c.378G>A	c.(376-378)tgG>tgA	p.W126*	TECR_ENST00000436007.2_Nonsense_Mutation_p.W296*|TECR_ENST00000215567.5_Nonsense_Mutation_p.W281*|TECR_ENST00000596073.1_Nonsense_Mutation_p.W126*			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	281					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						TGACCATCTGGGCCAAGGGCA	0.682000													4	3					0	0	0.00116845	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060741	35060741	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:35060741C>T	ENST00000373913.3	+	3	1101	c.621C>T	c.(619-621)tcC>tcT	p.S207S	DLGAP4_ENST00000373907.2_Silent_p.S207S|DLGAP4_ENST00000401952.2_Silent_p.S207S|DLGAP4_ENST00000339266.5_Silent_p.S207S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	207					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGTGGAGCTCCGATGACAACT	0.682000													48	23					0	0	0.000781405	0	0
SAE1	10055	broad.mit.edu	37	19	47653513	47653513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:47653513C>T	ENST00000413379.3	+	3	367	c.265C>T	c.(265-267)Cga>Tga	p.R89*	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Nonsense_Mutation_p.R89*|SAE1_ENST00000270225.7_Nonsense_Mutation_p.R89*|SAE1_ENST00000598840.1_Nonsense_Mutation_p.R89*	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	89					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GTCTGTTGGCCGAAATAGGGC	0.438000													41	61					0	0	0.00285205	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55563223C>T	ENST00000335605.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000													16	27					0	0	0.000566183	0	0
OR4N4	283694	broad.mit.edu	37	15	22382940	22382940	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:22382940C>T	ENST00000328795.4	+	1	559	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGTCCACTCCATTATCCAGG	0.532000													14	85					0	0	0.00121646	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418164	105418164	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:105418164G>A	ENST00000333244.5	-	7	3743	c.3624C>T	c.(3622-3624)acC>acT	p.T1208T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1208						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAGGTCAGTGGTCTTGAGGT	0.657000													47	18					0	0	0.000781405	0	0
TBX15	6913	broad.mit.edu	37	1	119427567	119427567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:119427567C>T	ENST00000369429.3	-	8	1606	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	TBX15_ENST00000207157.3_Missense_Mutation_p.E427K			Q96SF7	TBX15_HUMAN	T-box 15	533						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E427K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCAGTTTTTCCGGGCTTGCA	0.532000													9	16					0	0	0.000442599	0	0
USP44	84101	broad.mit.edu	37	12	95927372	95927372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:95927372G>A	ENST00000258499.3	-	2	949	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	USP44_ENST00000552440.1_Nonsense_Mutation_p.Q221*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Q221*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Q221*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	221					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATGGTCGACTGAGCGAGCCCT	0.403000													32	41					0	0	0.001512	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910801	230910801	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:230910801C>T	ENST00000295190.4	-	4	1499	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	347						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTTTTGCTCCGATAAGTTAT	0.423000													8	21					0	0	0.000274275	0	0
MYH3	4621	broad.mit.edu	37	17	10536071	10536071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:10536071G>A	ENST00000583535.1	-	34	4765	c.4678C>T	c.(4678-4680)Ctc>Ttc	p.L1560F	MYH3_ENST00000226209.7_Missense_Mutation_p.L1560F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1560					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGATTCGGAGGATCTTGGCT	0.448000													78	39					0	0	0.000781405	0	0
IFIH1	64135	broad.mit.edu	37	2	163128858	163128858	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163128858G>A	ENST00000263642.2	-	13	2889	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	832	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGAGCAACCAGGACGTAGGTG	0.413000													9	14					0	0	0.000442599	0	0
VPS13A	23230	broad.mit.edu	37	9	79946995	79946995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:79946995G>A	ENST00000360280.3	+	46	6321	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K	VPS13A_ENST00000357409.5_Missense_Mutation_p.E2021K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1982K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2021K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2021					Golgi to endosome transport|protein transport	intracellular	protein binding	p.E2021*(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCCTCACCTGAAAATGAATT	0.313000													43	69					0	0	0.000781405	0	0
FTHL17	53940	broad.mit.edu	37	X	31089887	31089887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:31089887C>T	ENST00000359202.3	-	1	283	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	62	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TCCATTTTGTCGTCCGACAGG	0.577000													39	7					0	0	0.00148497	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010878	59010878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:59010878G>A	ENST00000263093.2	-	7	1757	c.1648C>T	c.(1648-1650)Cgc>Tgc	p.R550C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R466C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	550					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCCCCGAGGCGGTCGCGGAAG	0.657000													25	29					0	0	0.00106085	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762229	23762229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:23762229C>T	ENST00000397312.2	-	2	278	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ELAVL2_ENST00000223951.6_Missense_Mutation_p.E2K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.E2K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E31K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E2K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	2					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)		AGTTGTGTTTCCATGGCAGCA	0.398000													25	10					0	0	0.000720815	0	0
IRAK3	11213	broad.mit.edu	37	12	66605284	66605284	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:66605284C>T	ENST00000261233.4	+	5	916	c.495C>T	c.(493-495)ttC>ttT	p.F165F	IRAK3_ENST00000457197.2_Silent_p.F104F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	165	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTAGAAATTTCCACAAAGACT	0.353000													24	23					0	0	0.00278032	0	0
FCGBP	8857	broad.mit.edu	37	19	40419873	40419873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:40419873C>T	ENST00000221347.6	-	6	3128	c.3121G>A	c.(3121-3123)Gga>Aga	p.G1041R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1041	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGTTGCTCCACAGCCGGGC	0.637000													17	28					0	0	0.00074312	0	0
LGI2	55203	broad.mit.edu	37	4	25005339	25005339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:25005339C>T	ENST00000382114.4	-	8	1557	c.1372G>A	c.(1372-1374)Gct>Act	p.A458T		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	458						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GATGGAAGAGCTTGGATCTCC	0.512000													44	65					0	0	0.000680045	0	0
FAM83H	286077	broad.mit.edu	37	8	144810762	144810762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:144810762G>A	ENST00000388913.3	-	5	994	c.869C>T	c.(868-870)gCc>gTc	p.A290V		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	290					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGGCCAGGGCCGCGGCCGA	0.706000													5	5					0	0	0.00116845	0	0
TMEM119	338773	broad.mit.edu	37	12	108985639	108985639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:108985639G>A	ENST00000392806.3	-	2	689	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	174						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAAGATGTCGGCCTGGAGCTG	0.716000													21	30					0	0	0.00106085	0	0
MRPS14	63931	broad.mit.edu	37	1	174987584	174987584	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:174987584C>T	ENST00000476371.1	-	2	190	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	58					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TGGTATTCTTCCTGAGTGAAT	0.388000													67	166					0	0	0.000781405	0	0
CHRND	1144	broad.mit.edu	37	2	233399004	233399004	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:233399004G>A	ENST00000258385.3	+	11	1355	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	CHRND_ENST00000543200.1_Silent_p.G426G|CHRND_ENST00000457943.2_Silent_p.G247G	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	441					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTGTGGATGGGGCAAACTTCA	0.537000													40	56					0	0	0.000680045	0	0
COPA	1314	broad.mit.edu	37	1	160265560	160265560	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:160265560G>A	ENST00000241704.7	-	23	2671	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S	COPA_ENST00000368069.3_Silent_p.S823S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	814					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAATCCTTTGGATACAGTCA	0.428000													33	92					0	0	0.00283554	0	0
SLC26A11	284129	broad.mit.edu	37	17	78211392	78211392	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78211392C>T	ENST00000361193.3	+	9	1264	c.985_splice	c.e9+1	p.F328_splice	SLC26A11_ENST00000572725.1_Splice_Site_p.F328_splice|SLC26A11_ENST00000411502.3_Splice_Site_p.F328_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.F328_splice	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	328				F -> S (in Ref. 2; AAO26673).		endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAAAGCCTTCGGTAAGACGC	0.607000													10	23					0	0	0.00136819	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048376	22048376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:22048376G>A	ENST00000376980.3	-	11	1609	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	440					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGAGGCCGGGCATCAGTGGC	0.657000													19	31					0	0	0.00152264	0	0
ZNF676	163223	broad.mit.edu	37	19	22364100	22364100	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:22364100C>A	ENST00000397121.2	-	3	736	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTCAAACCTTTCTCTCC	0.323000													24	62					3.01185e-09	1.14459e-08	0.000586117	1	0
SPANXN5	494197	broad.mit.edu	37	X	52826350	52826350	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:52826350C>T	ENST00000375511.3	-	1	791	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	13								p.R13R(2)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AGGGGCTCTTCCTCTTCTCCC	0.478000													65	10					0	0	0.000781405	0	0
OR2T27	403239	broad.mit.edu	37	1	248813307	248813307	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248813307C>T	ENST00000344889.3	-	1	878	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCCTTGTTCCTAAGGCTGT	0.483000													26	61					0	0	0.00127121	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20077788	20077788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:20077788C>T	ENST00000276390.2	+	14	1451	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	471					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTACGAAAATCGCACTGTCTT	0.393000													16	5					0	0	0.00152264	0	0
CYTH4	27128	broad.mit.edu	37	22	37708069	37708069	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:37708069G>A	ENST00000248901.6	+	12	1153	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	322	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGTTCTGCCTGGAGCTCTACA	0.632000													15	28					0	0	0.000422831	0	0
EP400	57634	broad.mit.edu	37	12	132529956	132529956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132529956C>T	ENST00000333577.4	+	39	7094	c.6985C>T	c.(6985-6987)Cgc>Tgc	p.R2329C	EP400_ENST00000389561.2_Missense_Mutation_p.R2293C|EP400_ENST00000332482.4_Missense_Mutation_p.R2256C|EP400_ENST00000330386.6_Missense_Mutation_p.R2212C|EP400_ENST00000389562.2_Missense_Mutation_p.R2292C			Q96L91	EP400_HUMAN	E1A binding protein p400	2329					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCTGAAAATTCGCAGAGAGGG	0.577000													12	30					0	0	0.00136819	0	0
FAM194A	131831	broad.mit.edu	37	3	150377804	150377804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:150377804C>T	ENST00000295910.6	-	14	1919	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	FAM194A_ENST00000491361.1_Missense_Mutation_p.E477K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	623										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTAATTTTTCCCAAACCTGG	0.383000													37	58					0	0	0.00111076	0	0
ZIC2	7546	broad.mit.edu	37	13	100637612	100637612	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:100637612C>T	ENST00000376335.3	+	3	1568	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	425					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGAATCCTCCCCGGCCGCCA	0.711000													7	21					0	0	0.000157383	0	0
MDN1	23195	broad.mit.edu	37	6	90409393	90409393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:90409393G>A	ENST00000369393.3	-	58	9039	c.8924C>T	c.(8923-8925)tCa>tTa	p.S2975L	MDN1_ENST00000428876.1_Missense_Mutation_p.S2975L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2975					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGACAAAATGAGATGAGGTG	0.413000													35	11					0	0	0.000692331	0	0
VPS25	84313	broad.mit.edu	37	17	40926710	40926710	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:40926710G>A	ENST00000253794.2	+	3	286	c.246G>A	c.(244-246)agG>agA	p.R82R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	82					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AGGAACTGAGGAAGAAAGGTG	0.398000													21	28					0	0	0.00278032	0	0
MPC2	25874	broad.mit.edu	37	1	167889261	167889261	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167889261G>A	ENST00000367846.4	-	4	501	c.303C>T	c.(301-303)ttC>ttT	p.F101F	MPC2_ENST00000271373.4_Silent_p.F101F	NM_015415.3	NP_056230.1			mitochondrial pyruvate carrier 2									p.F101L(1)									CCCCCACAAAGAAATTAACAG	0.353000													61	148					0	0	0.000781405	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950091	55950091	+	Silent	SNP	G	G	A	rs148211596	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:55950091G>A	ENST00000577830.1	-	5	1130	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CUEDC1_ENST00000577840.1_Silent_p.F102F|CUEDC1_ENST00000360238.2_Silent_p.F239F|CUEDC1_ENST00000407144.2_Silent_p.F239F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	239										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGTTCTGCAGGAAAAGCGCGA	0.637000													36	70					0	0	0.00148497	0	0
UCHL3	7347	broad.mit.edu	37	13	76169099	76169099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:76169099C>T	ENST00000377595.3	+	7	553	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	UCHL3_ENST00000606347.1_3'UTR|RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	175					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGCATTAGTTCATGTAGATGG	0.338000													99	174					0	0	0.000781405	0	0
THOC2	57187	broad.mit.edu	37	X	122753266	122753266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:122753266C>T	ENST00000245838.8	-	33	4328	c.4297G>A	c.(4297-4299)Gaa>Aaa	p.E1433K	THOC2_ENST00000491737.1_Missense_Mutation_p.E1318K|THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000355725.4_Missense_Mutation_p.E1433K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1433	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTGAAGATTCCTTGAGTTCG	0.388000													16	5					0	0	0.00152264	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188815	140188815	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140188815G>A	ENST00000530339.1	+	1	2043	c.2043G>A	c.(2041-2043)cgG>cgA	p.R681R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R681R|PCDHA4_ENST00000356878.4_Silent_p.R681R	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCACGGGCGTTGGTGG	0.637000													29	16					0	0	0.00127121	0	0
TRMU	55687	broad.mit.edu	37	22	46752825	46752825	+	Missense_Mutation	SNP	C	C	T	rs142346622		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:46752825C>T	ENST00000381019.3	+	10	1125	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	TRMU_ENST00000290846.4_Silent_p.G396G			O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	0						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCCAGAAGGGCCAGCGCAGAG	0.617000													21	20					0	0	0.00229938	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131882	40131882	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:40131882G>A	ENST00000235628.1	-	2	161	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	54					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGACACAGCGATGGTGACTG	0.587000													8	24					0	0	0.000673444	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926359	106926359	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:106926359C>T	ENST00000434710.1	-	0	262																											CCAGACCCTTCCCCGGAGCTT	0.542000													18	42					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9090772	9090772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9090772G>A	ENST00000397910.4	-	1	1246	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	348	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCAGAGAGGAAATTGTGCT	0.502000													12	23					0	0	0.00136819	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907921	12907921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12907921C>T	ENST00000317869.6	-	2	447	c.222G>A	c.(220-222)atG>atA	p.M74I		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGCTAGCAATCATTCTGCCAT	0.502000													15	87					0	0	0.000422831	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196369	102196369	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:102196369C>T	ENST00000306176.1	+	11	1303	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	ZPLD1_ENST00000466937.1_Silent_p.S385S|ZPLD1_ENST00000491959.1_Silent_p.S385S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	385						integral to membrane		p.S401S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGTTACGAGCTTTTCTCTTC	0.468000													44	73					0	0	0.000781405	0	0
PRPH2	5961	broad.mit.edu	37	6	42666149	42666149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:42666149C>T	ENST00000230381.5	-	3	1164	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	309					cell adhesion|visual perception	integral to membrane		p.E309K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			ACGCTCCTCTCCAGCAGCCAG	0.627000													18	32					0	0	0.00229938	0	0
FCRL2	79368	broad.mit.edu	37	1	157738389	157738389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:157738389C>T	ENST00000361516.3	-	5	746	c.698G>A	c.(697-699)gGa>gAa	p.G233E	FCRL2_ENST00000392274.3_Missense_Mutation_p.G233E|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	233	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTGACATTTCCTGTACCCCC	0.542000													48	116					0	0	0.000781405	0	0
OR4C46	119749	broad.mit.edu	37	11	51515496	51515496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:51515496C>T	ENST00000328188.1	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473000													37	66					0	0	0.00111076	0	0
DNAJC8	22826	broad.mit.edu	37	1	28537130	28537130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:28537130G>A	ENST00000263697.4	-	4	282	c.256C>T	c.(256-258)Cct>Tct	p.P86S	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	86	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTGTCAGGATGCACCAAG	0.398000													64	98					0	0	0.000781405	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997062	62997062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62997062C>T	ENST00000306494.6	-	1	62	c.63G>A	c.(61-63)atG>atA	p.M21I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	21					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAAGGAAAACCATCTGAAGGA	0.463000													8	35					0	0	0.000274275	0	0
KCNH5	27133	broad.mit.edu	37	14	63246624	63246624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:63246624C>T	ENST00000322893.7	-	10	2109	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	KCNH5_ENST00000394968.1_Missense_Mutation_p.G556E|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	614					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAAGATGTCTCCAAATACATC	0.428000													12	8					0	0	0.00244969	0	0
ADAM2	2515	broad.mit.edu	37	8	39618716	39618716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39618716C>T	ENST00000265708.4	-	15	1695	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	ADAM2_ENST00000347580.4_Missense_Mutation_p.G512E|ADAM2_ENST00000521880.1_Missense_Mutation_p.G531E|ADAM2_ENST00000379853.2_Missense_Mutation_p.G405E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	531	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTGTGTATCCTGAATCACT	0.323000													38	52					0	0	0.000680045	0	0
KDM2B	84678	broad.mit.edu	37	12	121970772	121970772	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:121970772G>A	ENST00000377069.4	-	8	1183	c.777C>T	c.(775-777)gaC>gaT	p.D259D	KDM2B_ENST00000543852.1_Silent_p.D59D|KDM2B_ENST00000536437.1_Silent_p.D173D|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377071.4_Silent_p.D290D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	290	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTTCCACACGGTCTCCCAGAA	0.527000													26	30					0	0	0.000720815	0	0
FPGS	2356	broad.mit.edu	37	9	130575600	130575600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:130575600C>T	ENST00000373225.3	+	15	1540	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	FPGS_ENST00000393706.2_Missense_Mutation_p.P468L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.P494L|FPGS_ENST00000373245.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	494					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	AGCCCAGAGCCCGGTGGGTCC	0.657000													12	15					0	0	0.000978159	0	0
HRNR	388697	broad.mit.edu	37	1	152192059	152192059	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152192059G>A	ENST00000368801.2	-	3	2121	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	682					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCAACCGGAGCCAGACC	0.592000													103	66					0	0	0.000781405	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211645	99211645	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:99211645G>T	ENST00000393760.1	+	3	562	c.213G>T	c.(211-213)ctG>ctT	p.L71L	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_Silent_p.L71L|ZDHHC16_ENST00000370842.2_Silent_p.L71L|ZDHHC16_ENST00000370854.3_Silent_p.L71L|ZDHHC16_ENST00000352634.4_Silent_p.L71L|ZDHHC16_ENST00000345745.5_Silent_p.L71L|ZDHHC16_ENST00000370846.4_Silent_p.L71L	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	71					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TCTACTGGCTGGTAGACAACG	0.587000													6	99					0.00198382	0.0074215	0.00198382	1	0
PRKACG	5568	broad.mit.edu	37	9	71628039	71628039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:71628039C>T	ENST00000377276.2	-	1	1000	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	324	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTACTGGCATCCCCAGGGCCT	0.522000													27	47					0	0	0.00209593	0	0
VIL1	7429	broad.mit.edu	37	2	219292982	219292982	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:219292982G>A	ENST00000248444.5	+	6	577	c.489G>A	c.(487-489)ggG>ggA	p.G163G	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.G163G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	163	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAACCGAGGGGATGTTTTCC	0.547000													29	41					0	0	0.00209593	0	0
OR52R1	119695	broad.mit.edu	37	11	4825415	4825415	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4825415G>A	ENST00000380382.1	-	1	432	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	OR52R1_ENST00000356069.2_Silent_p.L66L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATGGCCAGAAAGAGGTAC	0.498000													9	21					0	0	0.000274275	0	0
POFUT1	23509	broad.mit.edu	37	20	30822425	30822425	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:30822425C>T	ENST00000375749.3	+	7	1190	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	POFUT1_ENST00000539210.1_Silent_p.F165F	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	376					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTCTTTCTTCGGCATGGACA	0.607000													37	129					0	0	0.00170553	0	0
CCNK	8812	broad.mit.edu	37	14	99969075	99969075	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:99969075G>A	ENST00000389879.5	+	8	888	c.765G>A	c.(763-765)ctG>ctA	p.L255L	CCNK_ENST00000555049.1_Silent_p.L255L	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	255					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCAAATCCTGGATCTTTACT	0.403000													19	26					0	0	0.00188189	0	0
CRB1	23418	broad.mit.edu	37	1	197404099	197404099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197404099G>A	ENST00000367397.1	+	5	2107	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.E1012K|CRB1_ENST00000544212.1_Missense_Mutation_p.E517K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1036K|CRB1_ENST00000367399.2_Missense_Mutation_p.E924K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1036	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACATGGCACGAAGTGACCCT	0.453000													25	53					0	0	0.00106085	0	0
NYNRIN	57523	broad.mit.edu	37	14	24883901	24883901	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:24883901C>T	ENST00000382554.3	+	9	3264	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	982					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTCTGGGCCCCTGGAGAGTC	0.582000													5	10					0	0	0.000602214	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316460	43316460	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:43316460A>T	ENST00000321925.4	+	6	742	c.510A>T	c.(508-510)aaA>aaT	p.K170N	SLC14A1_ENST00000415427.3_Missense_Mutation_p.K226N|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.K170N|SLC14A1_ENST00000589700.1_Missense_Mutation_p.K170N|SLC14A1_ENST00000535474.1_Missense_Mutation_p.K38N|SLC14A1_ENST00000502059.2_Missense_Mutation_p.K62N|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.K65N|SLC14A1_ENST00000436407.3_Missense_Mutation_p.K226N	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	170						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCTCAGCAAATGGGACCTCC	0.458000													50	59					0	0	0.000781405	0	0
ARMC12	221481	broad.mit.edu	37	6	35704966	35704966	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:35704966G>A	ENST00000373866.3	+	1	103	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ARMC12_ENST00000373869.3_Silent_p.A27A|ARMC12_ENST00000288065.2_Silent_p.A27A			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	27							binding										GCGCCGGGGCGATCTACCTGC	0.597000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	0.000978159	0	0
CACNA1A	773	broad.mit.edu	37	19	13445274	13445274	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13445274G>A	ENST00000360228.5	-	8	1115	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	CACNA1A_ENST00000573710.2_Silent_p.N372N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	372					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGCCCGCCGGTTCTCCACCC	0.488000													22	42					0	0	0.00127121	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070167	57070167	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:57070167C>G	ENST00000532437.1	-	6	4760	c.4449G>C	c.(4447-4449)gaG>gaC	p.E1483D	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E1483D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1483	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCTTCCTCCTCCAACAGGC	0.711000													6	10					0	0	0.000442599	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807031	15807031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:15807031C>T	ENST00000550308.1	+	11	1690	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P437L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGGCCGGATCCTGAGGTGCTG	0.547000													23	31					0	0	0.000720815	0	0
FER1L6	654463	broad.mit.edu	37	8	125072930	125072930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:125072930C>T	ENST00000522917.1	+	24	3333	c.3127C>T	c.(3127-3129)Cag>Tag	p.Q1043*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Q1043*|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1043						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCAGCATCCAGGCAGACGC	0.527000													17	49					0	0	0.000958276	0	0
IL36G	56300	broad.mit.edu	37	2	113736264	113736264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:113736264C>T	ENST00000259205.4	+	2	118	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	IL36G_ENST00000376489.2_Nonsense_Mutation_p.Q17*	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	17					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGCCGTCTATCAATCAAGTGA	0.537000													31	42					0	0	0.00283554	0	0
GABRE	2564	broad.mit.edu	37	X	151124195	151124195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151124195C>T	ENST00000370325.1	-	7	975	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	GABRE_ENST00000370328.3_Missense_Mutation_p.A308T|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	308					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCCGGGCTGGAGCAGAC	0.527000													43	9					0	0	0.000680045	0	0
CALML3	810	broad.mit.edu	37	10	5567221	5567221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:5567221G>A	ENST00000315238.1	+	1	298	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	58	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						GAGATCGACCGGGACGGCAAC	0.662000													10	15					0	0	0.00136819	0	0
MRPL36	64979	broad.mit.edu	37	5	1799062	1799062	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:1799062C>T	ENST00000508987.1	-	2	125		c.e2-1		MRPL36_ENST00000382647.7_Splice_Site|MRPL36_ENST00000505059.2_Splice_Site|MRPL36_ENST00000505818.1_Splice_Site			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36						translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		TGTGGTGAATCTATGGGAGAG	0.468000													14	42					0	0	0.000308642	0	0
PGRMC2	10424	broad.mit.edu	37	4	129193638	129193638	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:129193638G>A	ENST00000520121.1	-	2	1491	c.525C>T	c.(523-525)gcC>gcT	p.A175A	PGRMC2_ENST00000296425.5_Silent_p.A151A|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503872.1_5'UTR|PGRMC2_ENST00000503588.1_Silent_p.A19A	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		GTCCTCTGGAGGCATCCCTAC	0.373000													9	22					0	0	0.000442599	0	0
OR5M11	219487	broad.mit.edu	37	11	56310364	56310364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56310364C>T	ENST00000528616.2	-	1	393	c.370G>A	c.(370-372)Gcc>Acc	p.A124T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCATATATGGCCACATAGCGG	0.468000													13	13					0	0	0.00185496	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540798	133540798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:133540798G>A	ENST00000409261.1	-	14	3959	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1196S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1196							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGCTTGCTGGATTCTTGGAG	0.493000													21	26					0	0	0.00152264	0	0
AGPAT4	56895	broad.mit.edu	37	6	161587366	161587366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:161587366C>T	ENST00000320285.4	-	3	474	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E26K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.E88K|AGPAT4_ENST00000366905.3_Missense_Mutation_p.E88K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	88					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ATGGCATTTTCCTTCCCATAC	0.537000													20	9					0	0	0.00152264	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913747	14913747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:14913747C>T	ENST00000334636.5	-	1	51	c.5G>A	c.(4-6)tGg>tAg	p.W2*		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	2					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CCAAAGCTTCCACATCGGCCC	0.672000													6	16					0	0	0.00116845	0	0
KDR	3791	broad.mit.edu	37	4	55972108	55972108	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:55972108C>T	ENST00000263923.4	-	12	1832		c.e12-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACTTACAGTCTGTGCGGGGA	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			26	44					0	0	0.000720815	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343147	69343147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:69343147G>A	ENST00000305363.4	+	8	832	c.768G>A	c.(766-768)atG>atA	p.M256I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	256	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTTCGAAAATGAAACGGGGTC	0.383000													53	77					0	0	0.000781405	0	0
ADCY10	55811	broad.mit.edu	37	1	167817666	167817666	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167817666A>C	ENST00000367848.1	-	19	2591	c.2094T>G	c.(2092-2094)agT>agG	p.S698R	ADCY10_ENST00000367851.4_Missense_Mutation_p.S790R|ADCY10_ENST00000545172.1_Missense_Mutation_p.S637R|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	790					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGACTTCTTCACTTTCCTTAT	0.423000													29	73					0	0	0.0024448	0	0
MCM8	84515	broad.mit.edu	37	20	5932719	5932719	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:5932719A>G	ENST00000378896.3	+	2	435	c.58A>G	c.(58-60)Agg>Ggg	p.R20G	MCM8_ENST00000378886.2_Missense_Mutation_p.R20G|MCM8_ENST00000378883.1_Missense_Mutation_p.R20G|MCM8_ENST00000265187.4_Missense_Mutation_p.R20G	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	20					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AAGCTGGAAAAGGGGAAGAGG	0.428000													4	38					0	0	0.000602214	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188067	140188067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140188067C>T	ENST00000530339.1	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S432L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S432L	NM_018907.2	NP_061730.1												p.S432L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.617000													37	66					0	0	0.00128727	0	0
EML1	2009	broad.mit.edu	37	14	100363551	100363551	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:100363551C>T	ENST00000262233.6	+	7	886	c.747C>T	c.(745-747)ttC>ttT	p.F249F	EML1_ENST00000327921.9_Silent_p.F237F|EML1_ENST00000334192.4_Silent_p.F268F	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	249						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTCTACTTCATCGCATCCG	0.493000													33	26					0	0	0.000814825	0	0
FAM184A	79632	broad.mit.edu	37	6	119324215	119324215	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:119324215C>T	ENST00000338891.7	-	9	2381		c.e9-1		FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ACACTCTTGTCTAAAATAAAA	0.338000													17	10					0	0	0.00188189	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652386	113652386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:113652386G>A	ENST00000358160.4	+	12	1730	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R246Q|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R208Q|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R142Q|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	413						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CGGGAAGCACGATTTTATTTG	0.343000													33	53					0	0	0.00128727	0	0
P2RY10	27334	broad.mit.edu	37	X	78216491	78216491	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:78216491C>T	ENST00000171757.2	+	4	754	c.474C>T	c.(472-474)atC>atT	p.I158I	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.I158I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I158I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCTGGATCGTTGTGGGGA	0.493000													18	9					0	0	0.00121646	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509527	149509527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:149509527G>A	ENST00000261799.4	-	10	1841	c.1372C>T	c.(1372-1374)Cca>Tca	p.P458S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	458	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTCACGTGGACACCTGCCA	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	37					0	0	0.00229938	0	0
DNAH7	56171	broad.mit.edu	37	2	196852704	196852704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196852704C>T	ENST00000312428.6	-	13	1703	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	535	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						TACTGTATTTCCTCTATTAGT	0.328000													13	27					0	0	0.000308642	0	0
WDR24	84219	broad.mit.edu	37	16	739256	739256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:739256G>A	ENST00000293883.4	-	1	1144	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	WDR24_ENST00000248142.6_Missense_Mutation_p.H191Y	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	191										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCGGTGGGGTGGAAGCAGACT	0.587000													16	23					0	0	0.000566183	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391197	23391197	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:23391197T>G	ENST00000258729.3	-	6	766	c.410A>C	c.(409-411)gAc>gCc	p.D137A	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	137	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATTCAGTTTGTCTAGTGCTCT	0.463000													14	38					0	0	0.000422831	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488827	25488827	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:25488827G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TGCTCAATAGGATTACGCTGA	0.493000													105	153					0	0	0.000781405	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:48919933C>T	ENST00000310194.1	+	1	519	c.519C>T	c.(517-519)atC>atT	p.I173I	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000													32	51					0	0	0.0024448	0	0
BRINP3	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:190424010C>T	ENST00000367462.3	-	2	242	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		4						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCTCTGCTTCGCCATATCAT	0.463000													21	10					0	0	0.00229938	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184585175	184585175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:184585175C>T	ENST00000334690.6	+	2	357	c.155C>T	c.(154-156)tCt>tTt	p.S52F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S52F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	52																	GTACCAATTTCTTTCAAGGTG	0.468000													28	45					0	0	0.00178596	0	0
MXRA5	25878	broad.mit.edu	37	X	3239556	3239556	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:3239556C>G	ENST00000217939.6	-	5	4324	c.4170G>C	c.(4168-4170)agG>agC	p.R1390S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1390						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTCTGTAGCCTCCCAGGCT	0.498000													5	4					0	0	0.000602214	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211368	50211368	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:50211368C>T	ENST00000002829.3	+	3	739	c.255C>T	c.(253-255)atC>atT	p.I85I	SEMA3F_ENST00000413852.1_Silent_p.I17I|SEMA3F_ENST00000434342.1_Silent_p.I85I	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	85	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGCACGACATCAACCGCGAGC	0.617000													19	16					0	0	0.00047179	0	0
COL1A1	1277	broad.mit.edu	37	17	48267367	48267367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48267367G>A	ENST00000225964.5	-	36	2672	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	852	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCACAATGGGGCCAGGGGGT	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						37	65					0	0	0.00195071	0	0
COL4A1	1282	broad.mit.edu	37	13	110835383	110835383	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:110835383C>T	ENST00000375820.4	-	28	2173	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	684	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGCTGGCCCACAGCGCCCT	0.612000													10	15					0	0	0.000442599	0	0
CCDC147	159686	broad.mit.edu	37	10	106153090	106153090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106153090G>A	ENST00000369704.3	+	11	1665	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	511										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGGTTAGGATGAAATAACAGA	0.378000													16	30					0	0	0.00074312	0	0
CPA5	93979	broad.mit.edu	37	7	130008271	130008271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:130008271G>A	ENST00000485477.1	+	12	2273	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	CPA5_ENST00000355388.3_Missense_Mutation_p.V382I|CPA5_ENST00000393213.3_Missense_Mutation_p.V382I|CPA5_ENST00000474905.1_Missense_Mutation_p.V382I|CPA5_ENST00000461828.1_Missense_Mutation_p.V382I|CPA5_ENST00000466363.2_Missense_Mutation_p.V382I|CPA5_ENST00000431780.2_Silent_p.P353P			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	382					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGGGATCACCGTCGACTGGGC	0.557000													36	75					0	0	0.00148497	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36123592	36123592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:36123592G>A	ENST00000258840.6	-	30	4601	c.4211C>T	c.(4210-4212)tCt>tTt	p.S1404F	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1357F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1357F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1370F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1357	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTCAAGGGAGAATCAGGCTG	0.289000													24	19					0	0	0.000586117	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526533	26526533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:26526533G>A	ENST00000456354.2	+	7	1038	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	324					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CAACAGCAACGAATAACCTTT	0.512000													15	15					0	0	0.000308642	0	0
WDR25	79446	broad.mit.edu	37	14	100847981	100847981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:100847981C>T	ENST00000554175.1	+	2	899	c.720C>T	c.(718-720)ttC>ttT	p.240_240insF	WDR25_ENST00000554998.1_Silent_p.F240F|WDR25_ENST00000402312.3_Silent_p.F240F|WDR25_ENST00000335290.6_Silent_p.F240F			Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAGTGCTTTTCCACCTGAGAG	0.498000													11	29					0	0	0.000673444	0	0
ICK	22858	broad.mit.edu	37	6	52897349	52897349	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:52897349T>C	ENST00000356971.3	-	5	749	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	ICK_ENST00000350082.5_Missense_Mutation_p.Y87C	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	87	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					AATGAGCTGGTAAAGATTTTC	0.308000													30	33					0	0	0.000692331	0	0
MBL2	4153	broad.mit.edu	37	10	54531404	54531404	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:54531404C>T	ENST00000373968.3	-	0	56					NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble						acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATGGTCCTCACCTTGGTGTGA	0.478000													6	7					0	0	0.000157383	0	0
DHRSX	207063	broad.mit.edu	37	X	2184888	2184888	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:2184888C>A	ENST00000334651.5	-	5	541	c.489G>T	c.(487-489)ttG>ttT	p.L163F	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	163							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCAGCGTATCCAAGAGAAGGT	0.552000													10	201					0.000442599	0.00167278	0.000442599	1	0
CLIP1	6249	broad.mit.edu	37	12	122825945	122825945	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:122825945G>A	ENST00000358808.2	-	10	1927	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000302528.7_Silent_p.N591N|CLIP1_ENST00000537178.1_Silent_p.N556N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	602					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAATGACTCGTTCTCTTTGG	0.468000													53	93					0	0	0.000781405	0	0
ZBBX	79740	broad.mit.edu	37	3	167023676	167023676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:167023676C>T	ENST00000392766.2	-	17	1820	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E494K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E494K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E465K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E494K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	494						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTTTTTCAATGTCAGAA	0.318000													12	11					0	0	0.000308642	0	0
KIF20B	9585	broad.mit.edu	37	10	91469688	91469688	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91469688T>C	ENST00000416354.1	+	5	428	c.356T>C	c.(355-357)tTt>tCt	p.F119S	KIF20B_ENST00000371728.3_Missense_Mutation_p.F119S|KIF20B_ENST00000394289.2_Missense_Mutation_p.F119S|KIF20B_ENST00000260753.4_Missense_Mutation_p.F119S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	119	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTAGGTTTTTGGCCCAGCA	0.333000													21	38					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179495544	179495544	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179495544A>T	ENST00000589042.1	-	238	44365	c.44141T>A	c.(44140-44142)cTa>cAa	p.L14714Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L5774Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L5649Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L13073Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L5841Q|TTN_ENST00000342992.6_Missense_Mutation_p.L12146Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13073	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTGGAGTAGGGCCTCTCC	0.468000													14	19					0	0	0.000422831	0	0
ARID1A	8289	broad.mit.edu	37	1	27057884	27057884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:27057884C>T	ENST00000324856.7	+	3	1963	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P531L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P148L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	531					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.P531L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCAGTCCCCGGCTCCATAC	0.622000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								42	75					0	0	0.000781405	0	0
TMEM92	162461	broad.mit.edu	37	17	48355985	48355985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48355985C>T	ENST00000300433.3	+	4	274	c.164C>T	c.(163-165)cCc>cTc	p.P55L	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Missense_Mutation_p.P55L	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	55						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTCCCTGGCCCCGTGAGGTGA	0.637000													28	10					0	0	0.001512	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013708	99013708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:99013708C>T	ENST00000375263.3	-	5	492	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	HSD17B3_ENST00000375262.2_Missense_Mutation_p.E149K	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	149					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACCTGGATTTCATCCGGTGCG	0.488000													25	31					0	0	0.000878237	0	0
YEATS2	55689	broad.mit.edu	37	3	183515738	183515738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:183515738C>T	ENST00000305135.5	+	22	3320	c.3125C>T	c.(3124-3126)tCc>tTc	p.S1042F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1042					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCAGTCAGTCCAGTCCGCAG	0.498000													13	24					0	0	0.00185496	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861740	40861740	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:40861740C>T	ENST00000315616.7	+	1	242	c.204C>T	c.(202-204)tcC>tcT	p.S68S	RPUSD2_ENST00000559271.1_Silent_p.S68S	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	68					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TTGAGCTGTCCCCCGGGCCCC	0.682000													11	13					0	0	0.00136819	0	0
TMEM225	338661	broad.mit.edu	37	11	123756080	123756080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:123756080G>A	ENST00000375026.2	-	1	269	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	18						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TACGGCCCAGGAGGAGAAAAG	0.408000													11	4					0	0	0.000978159	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617648	111617648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111617648G>A	ENST00000374667.3	-	1	1591	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						CTTGCCGTAGGAGTAGATGGA	0.657000													16	22					0	0	0.000566183	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974730	64974730	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:64974730A>T	ENST00000399262.2	-	8	1415	c.1197T>A	c.(1195-1197)aaT>aaA	p.N399K	JMJD1C_ENST00000399251.1_Missense_Mutation_p.N180K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.N180K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.N217K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	399					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTCAATTCATTCTCTGGCT	0.348000													27	42					0	0	0.000586117	0	0
SCEL	8796	broad.mit.edu	37	13	78183195	78183195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:78183195C>T	ENST00000535157.1	+	19	1264	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	SCEL_ENST00000377246.3_Missense_Mutation_p.S387F|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Missense_Mutation_p.S407F	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	407	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTTTGAAGTTCCAAAGACCTT	0.269000													16	24					0	0	0.000566183	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907288	12907288	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12907288G>A	ENST00000317869.6	-	2	1080	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CATTGGTGCTGTCTCTGTCAT	0.438000													49	133					0	0	0.000781405	0	0
RCAN2	10231	broad.mit.edu	37	6	46216547	46216547	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:46216547G>A	ENST00000371374.1	-	3	503	c.312C>T	c.(310-312)ttC>ttT	p.F104F	RCAN2_ENST00000330430.6_Silent_p.F58F|RCAN2_ENST00000306764.7_Silent_p.F104F|RCAN2_ENST00000405162.1_Silent_p.F104F	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	58					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAGGATTGCTGAAGTTTATAC	0.393000													10	25					0	0	0.000442599	0	0
DCDC2	51473	broad.mit.edu	37	6	24278405	24278405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:24278405G>A	ENST00000378454.3	-	7	1095	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	265					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GTTGTCACTGGATCCAACTGT	0.363000													21	30					0	0	0.00047179	0	0
LNPEP	4012	broad.mit.edu	37	5	96315499	96315499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:96315499C>T	ENST00000231368.5	+	2	1369	c.677C>T	c.(676-678)tCa>tTa	p.S226L	LNPEP_ENST00000395770.3_Missense_Mutation_p.S212L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	226					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCAGCAGTTTCAAGCCAAGAA	0.428000													10	9					0	0	0.00185496	0	0
DPY19L3	147991	broad.mit.edu	37	19	32973073	32973073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:32973073C>T	ENST00000342179.5	+	19	2293	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	DPY19L3_ENST00000392250.2_Missense_Mutation_p.P693L|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	693						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACCTGCCTCCCTACGTGGCC	0.463000													56	109					0	0	0.000781405	0	0
ATN1	1822	broad.mit.edu	37	12	7050626	7050626	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:7050626C>A	ENST00000356654.4	+	9	3685	c.3448C>A	c.(3448-3450)Ctg>Atg	p.L1150M	ATN1_ENST00000396684.2_Missense_Mutation_p.L1150M	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1150					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCAGCTGAGCTGCAGCGCTT	0.647000													32	43					2.47316e-13	9.43116e-13	0.00058488	1	0
EFHD2	79180	broad.mit.edu	37	1	15752394	15752394	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:15752394C>T	ENST00000375980.4	+	2	413	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	112	EF-hand 1.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGCTTCATCGACCTGATGG	0.542000													48	68					0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94574255	94574255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:94574255C>T	ENST00000370225.3	-	4	406	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R107Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	107					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R107Q(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGAAAATCTCGATATACCCT	0.393000													22	35					0	0	0.000720815	0	0
POF1B	79983	broad.mit.edu	37	X	84560875	84560875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:84560875C>T	ENST00000262753.4	-	13	1504	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	POF1B_ENST00000373145.3_Missense_Mutation_p.M453I	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	453							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CAATCTCATCCATTTTAGCCT	0.393000													13	2					0	0	0.00185496	0	0
ATR	545	broad.mit.edu	37	3	142281766	142281766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:142281766G>A	ENST00000350721.4	-	4	599	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	ATR_ENST00000383101.3_Missense_Mutation_p.H160Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	160					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTTCTATGGAGGTAAACC	0.363000								Other conserved DNA damage response genes					42	72					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13894774	13894774	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13894774T>A	ENST00000265104.4	-	16	2520	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	806	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCAAAAGTGTTTTCTAAA	0.388000									Kartagener syndrome				17	26					0	0	0.00152264	0	0
UBE4A	9354	broad.mit.edu	37	11	118250261	118250261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118250261C>T	ENST00000252108.3	+	11	1803	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	UBE4A_ENST00000431736.2_Missense_Mutation_p.R565C|UBE4A_ENST00000545354.1_Missense_Mutation_p.R30C	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	558					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGACAATCTTCGTGAGCAGTT	0.473000													41	44					0	0	0.0025221	0	0
LAMC1	3915	broad.mit.edu	37	1	183111717	183111717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:183111717C>T	ENST00000258341.4	+	28	4879	c.4622C>T	c.(4621-4623)aCc>aTc	p.T1541I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1541	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTGAAGGCACCCTAAACAAA	0.453000													13	30					0	0	0.00185496	0	0
TGM5	9333	broad.mit.edu	37	15	43552317	43552317	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43552317G>A	ENST00000220420.5	-	3	376	c.369C>T	c.(367-369)tcC>tcT	p.S123S	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	123					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCCCTGGAAGGAGTCGATGT	0.622000													43	44					0	0	0.000781405	0	0
STK33	65975	broad.mit.edu	37	11	8486300	8486300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:8486300C>T	ENST00000447869.1	-	3	1327	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	STK33_ENST00000396672.1_Missense_Mutation_p.E137K|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000396673.1_Missense_Mutation_p.E137K|STK33_ENST00000534493.1_Missense_Mutation_p.E96K|STK33_ENST00000315204.1_Missense_Mutation_p.E137K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	137	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTTCTGTTTCCTTGTCTGTC	0.408000													27	57					0	0	0.00283554	0	0
DOCK2	1794	broad.mit.edu	37	5	169186717	169186717	+	Silent	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:169186717T>C	ENST00000256935.8	+	24	2465	c.2385T>C	c.(2383-2385)gcT>gcC	p.A795A	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.A287A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	795					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTGGCGGCTTTGAAATACA	0.453000													28	38					0	0	0.00178596	0	0
MTUS2	23281	broad.mit.edu	37	13	30062078	30062078	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:30062078G>A	ENST00000431530.3	+	9	3529	c.3471G>A	c.(3469-3471)gaG>gaA	p.E1157E	MTUS2_ENST00000542829.1_Silent_p.E36E|MTUS2_ENST00000380808.2_Silent_p.E126E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1147						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCTCCTAGAGATGGAAAATA	0.542000													27	45					0	0	0.00058488	0	0
DDX53	168400	broad.mit.edu	37	X	23018584	23018584	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:23018584A>T	ENST00000327968.5	+	1	498	c.410A>T	c.(409-411)aAt>aTt	p.N137I	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	137						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATTGGAAGAAATCTAGGCAGA	0.438000													52	11					0	0	0.000781405	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166276	180166276	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:180166276G>T	ENST00000307832.2	-	1	823	c.783C>A	c.(781-783)tcC>tcA	p.S261S		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTGTGGATGGATTGGAGAT	0.423000													7	151					0.00198382	0.0074215	0.00198382	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64721966	64721966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:64721966C>T	ENST00000338957.4	+	5	1455	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P452L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	452							endonuclease activity|nucleic acid binding|zinc ion binding	p.P313H(1)|p.P399H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTTCTGTCCCCTCGCTTGTG	0.607000													15	2					0	0	0.000308642	0	0
PLXNB3	5365	broad.mit.edu	37	X	153033717	153033717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:153033717C>T	ENST00000538966.1	+	5	1440	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	PLXNB3_ENST00000538776.1_Missense_Mutation_p.S20L|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S20L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S367L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	367	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCCGAGTCGTACCCCTGT	0.687000													19	5					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	9064305	9064305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9064305G>A	ENST00000397910.4	-	3	23344	c.23141C>T	c.(23140-23142)cCc>cTc	p.P7714L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGGAAGGGGAGAGGGGGG	0.537000													11	13					0	0	0.000978159	0	0
MYO3B	140469	broad.mit.edu	37	2	171056660	171056660	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:171056660G>A	ENST00000334231.6	+	3	214	c.213_splice	c.e3-1	p.D72_splice	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Splice_Site_p.D63_splice|MYO3B_ENST00000408978.4_Splice_Site_p.D63_splice			Q8WXR4	MYO3B_HUMAN	myosin IIIB	63	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.D63Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCTGTTTAGGATATGGATGA	0.348000													13	19					0	0	0.00185496	0	0
MYO9A	4649	broad.mit.edu	37	15	72122637	72122637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:72122637G>A	ENST00000356056.5	-	40	7325	c.6853C>T	c.(6853-6855)Cgt>Tgt	p.R2285C	MYO9A_ENST00000564571.1_Missense_Mutation_p.R2285C|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2356C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2266C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2285	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R2285C(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCCTCGACGAATACGCCCC	0.443000													13	18					0	0	0.00244969	0	0
TMEM92	162461	broad.mit.edu	37	17	48355984	48355984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48355984C>T	ENST00000300433.3	+	4	273	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Missense_Mutation_p.P55S	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	55						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CTTCCCTGGCCCCGTGAGGTG	0.632000													30	10					0	0	0.0024448	0	0
KRT77	374454	broad.mit.edu	37	12	53096951	53096951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:53096951C>T	ENST00000341809.3	-	1	296	c.268G>A	c.(268-270)Gga>Aga	p.G90R	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	90	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTCCAAATCCCCCTACTCCC	0.572000													6	4					0	0	0.00198382	0	0
CCIN	881	broad.mit.edu	37	9	36170567	36170567	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:36170567C>T	ENST00000335119.2	+	1	1179	c.1068C>T	c.(1066-1068)acC>acT	p.T356T		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	356					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCCTGGACCAAGTTGCCTG	0.582000													23	48					0	0	0.00278032	0	0
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	G	A	rs35677292		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338000													9	9					0	0	0.000442599	0	0
DSG4	147409	broad.mit.edu	37	18	28968850	28968850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:28968850C>T	ENST00000359747.4	+	5	415	c.386C>T	c.(385-387)gCt>gTt	p.A129V	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A129V	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	129	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTGCCGGGCTCTGAATTCA	0.373000													38	46					0	0	0.00148497	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56185123C>T	ENST00000312253.1	-	1	585	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000													20	32					0	0	0.000958276	0	0
TRMU	55687	broad.mit.edu	37	22	46752826	46752826	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:46752826C>G	ENST00000290846.4	+	11	1529	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E	TRMU_ENST00000381019.3_Missense_Mutation_p.P369R	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	397						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCAGAAGGGCCAGCGCAGAGC	0.617000													24	20					0	0	0.00229938	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415630	37415630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:37415630C>T	ENST00000535679.1	-	1	153	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SULT6B1_ENST00000379149.2_Missense_Mutation_p.E52K|SULT6B1_ENST00000260637.3_Missense_Mutation_p.E14K|SULT6B1_ENST00000407963.1_Missense_Mutation_p.E14K			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	52						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTCTGGCTTCGAAGGTGTCC	0.448000													35	58					0	0	0.00195071	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474304	43474304	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:43474304C>T	ENST00000532038.1	-	10	1398	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	ARHGAP27_ENST00000428638.1_Silent_p.E643E|ARHGAP27_ENST00000442348.1_Silent_p.E616E|ARHGAP27_ENST00000528384.1_Silent_p.E275E|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000455881.1_Silent_p.E302E|ARHGAP27_ENST00000532891.2_Silent_p.E621E|ARHGAP27_ENST00000376922.2_Silent_p.E302E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	643	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGCGTCCTCCTCTTTCTCCT	0.667000													53	36					0	0	0.000781405	0	0
ATP2B4	493	broad.mit.edu	37	1	203678659	203678659	+	Silent	SNP	C	C	T	rs150320737		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:203678659C>T	ENST00000357681.5	+	11	2911	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	ATP2B4_ENST00000367218.3_Silent_p.I596I|ATP2B4_ENST00000341360.2_Silent_p.I596I|ATP2B4_ENST00000391954.2_Silent_p.I596I|ATP2B4_ENST00000367219.3_Silent_p.I584I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	596					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGAGATCATCTTGCGCA	0.542000													34	31					0	0	0.00111076	0	0
KIF1A	547	broad.mit.edu	37	2	241728729	241728729	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:241728729G>A	ENST00000498729.2	-	3	353	c.106_splice	c.e3-1	p.T36_splice	KIF1A_ENST00000320389.7_Splice_Site_p.T36_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	36	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTAACAATGGCTGTGGGAGG	0.597000													19	16					0	0	0.000958276	0	0
CLOCK	9575	broad.mit.edu	37	4	56304485	56304485	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:56304485C>T	ENST00000309964.4	-	21	2575	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	CLOCK_ENST00000381322.1_Silent_p.Q775Q|CLOCK_ENST00000513440.1_Silent_p.Q775Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	775					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCAGCTGAGCCTGAGATGGTT	0.478000													15	24					0	0	0.000566183	0	0
EPHA10	284656	broad.mit.edu	37	1	38187513	38187513	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:38187513C>T	ENST00000373048.4	-	11	1964	c.1965G>A	c.(1963-1965)cgG>cgA	p.R655R	EPHA10_ENST00000427468.2_Silent_p.R655R|EPHA10_ENST00000330210.7_Silent_p.R150R|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	655	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCCCCAAACCGCCCTGTGG	0.652000													3	8					0	0	0.00024832	0	0
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418000													26	3					0	0	0.00047179	0	0
BAZ2B	29994	broad.mit.edu	37	2	160269054	160269054	+	Silent	SNP	T	T	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:160269054T>C	ENST00000392783.2	-	14	2964	c.2469A>G	c.(2467-2469)ggA>ggG	p.G823G	BAZ2B_ENST00000392782.1_Silent_p.G787G|BAZ2B_ENST00000355831.2_Silent_p.G789G|BAZ2B_ENST00000343439.5_Silent_p.G723G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	823				G -> E (in Ref. 1; BAA89212).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCACTGCATTCCCTTTTAAT	0.328000													10	17					0	0	0.000673444	0	0
BMP2	650	broad.mit.edu	37	20	6759677	6759677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:6759677G>A	ENST00000378827.4	+	3	2351	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	378					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGACGAGAATGAAAAGGTTGT	0.383000													31	38					0	0	0.00111076	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687037	68687037	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:68687037C>T	ENST00000361320.4	+	2	941	c.363C>T	c.(361-363)atC>atT	p.I121I	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	121						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAATAGAATCTCCTATTTTC	0.393000													53	78					0	0	0.000781405	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060740	35060740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:35060740C>T	ENST00000373913.3	+	3	1100	c.620C>T	c.(619-621)tCc>tTc	p.S207F	DLGAP4_ENST00000373907.2_Missense_Mutation_p.S207F|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S207F|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S207F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	207					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGGTGGAGCTCCGATGACAAC	0.682000													47	26					0	0	0.000781405	0	0
OR4A47	403253	broad.mit.edu	37	11	48510798	48510798	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48510798C>T	ENST00000446524.1	+	1	530	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGGATTTCTGCACTCAGT	0.428000													8	24					0	0	0.000274275	0	0
LTK	4058	broad.mit.edu	37	15	41799333	41799333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:41799333C>T	ENST00000263800.6	-	11	1597	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	LTK_ENST00000355166.5_Missense_Mutation_p.G440S|LTK_ENST00000561619.1_Missense_Mutation_p.G199S|LTK_ENST00000453182.2_Missense_Mutation_p.R401K	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	501					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGGTGACACCTGGTGGCAGA	0.567000										TSP Lung(18;0.14)			18	42					0	0	0.000958276	0	0
ZNF583	147949	broad.mit.edu	37	19	56935483	56935483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56935483C>T	ENST00000333201.9	+	5	1666	c.1456C>T	c.(1456-1458)Cat>Tat	p.H486Y	ZNF583_ENST00000291598.7_Missense_Mutation_p.H486Y|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCAGAGAATTCATACTGGAGA	0.383000													25	38					0	0	0.000720815	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643951	88643951	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:88643951C>T	ENST00000301011.5	+	2	620	c.420C>T	c.(418-420)ccC>ccT	p.P140P	ZC3H18_ENST00000452588.2_Silent_p.P140P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	140						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCAGCTCCCGCCGTCCAGG	0.612000													8	18					0	0	0.000274275	0	0
SRCAP	10847	broad.mit.edu	37	16	30748596	30748596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:30748596C>T	ENST00000262518.4	+	34	7620	c.7235C>T	c.(7234-7236)aCt>aTt	p.T2412I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2350I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2254I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2412					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCAAACCACACTCCTGTCATA	0.642000													8	19					0	0	0.000274275	0	0
OR1L1	26737	broad.mit.edu	37	9	125423999	125423999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125423999G>A	ENST00000373686.1	+	1	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACAACTATGGGAAGAAATAAC	0.418000													29	39					0	0	0.0024448	0	0
ZNF564	163050	broad.mit.edu	37	19	12637887	12637887	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:12637887G>A	ENST00000339282.7	-	4	1231	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGAACTGAAGGTTTTACCAC	0.408000													17	32					0	0	0.00152264	0	0
GPR75	10936	broad.mit.edu	37	2	54080959	54080959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:54080959G>A	ENST00000394705.2	-	2	1205	c.935C>T	c.(934-936)tCc>tTc	p.S312F	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	312						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTGGCAGTGGAGAGGTTGAT	0.542000													18	25					0	0	0.00074312	0	0
CCDC84	338657	broad.mit.edu	37	11	118881946	118881946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118881946C>T	ENST00000334418.1	+	5	522	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	156										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGCTCAGATCCGTGAGGTGGA	0.562000													8	30					0	0	0.000673444	0	0
KMT2B	9757	broad.mit.edu	37	19	36218862	36218862	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36218862C>T	ENST00000222270.7	+	18	4473	c.4473C>T	c.(4471-4473)ggC>ggT	p.G1491G	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.G1491G	NM_014727.1	NP_055542.1																					GGGCTGGAGGCCAGATGAAGG	0.647000													7	2					0	0	0.00198382	0	0
MYH11	4629	broad.mit.edu	37	16	15841753	15841753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:15841753C>T	ENST00000338282.6	-	18	2334	c.2228G>A	c.(2227-2229)gGg>gAg	p.G743E	MYH11_ENST00000396324.3_Missense_Mutation_p.G750E|MYH11_ENST00000576790.1_Missense_Mutation_p.G743E|MYH11_ENST00000300036.5_Missense_Mutation_p.G743E|MYH11_ENST00000452625.2_Missense_Mutation_p.G750E	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	743	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCCTGCTTCCCGTCCATGAA	0.587000			T	CBFB	AML								10	32					0	0	0.00185496	0	0
HTR2C	3358	broad.mit.edu	37	X	114141204	114141204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:114141204C>T	ENST00000371950.3	+	6	1232	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	HTR2C_ENST00000371951.1_Silent_p.F201F|HTR2C_ENST00000276198.1_Silent_p.F201F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448000													43	8					0	0	0.00285205	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:226447249G>A	ENST00000272907.6	+	4	1529	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000													5	12					0	0	0.00116845	0	0
UNC79	57578	broad.mit.edu	37	14	93943917	93943917	+	Silent	SNP	G	G	A	rs139388481	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:93943917G>A	ENST00000553484.1	+	4	616	c.462G>A	c.(460-462)tcG>tcA	p.S154S	UNC79_ENST00000256339.4_5'UTR|UNC79_ENST00000393151.2_Silent_p.S154S|UNC79_ENST00000555664.1_Silent_p.S154S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	154						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGGACAGTCGATATTTTATA	0.328000													8	3					0	0	0.000157383	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307342	39307342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:39307342G>A	ENST00000541347.1	-	2	898	c.659C>T	c.(658-660)tCc>tTc	p.S220F	CX3CR1_ENST00000542107.1_Missense_Mutation_p.S220F|CX3CR1_ENST00000399220.2_Missense_Mutation_p.S220F|CX3CR1_ENST00000358309.3_Missense_Mutation_p.S252F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	220					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTTCTTGCAGGAAAACAGCGT	0.453000													39	74					0	0	0.000680045	0	0
ZFP1	162239	broad.mit.edu	37	16	75203807	75203807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:75203807C>T	ENST00000393430.2	+	4	923	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	ZFP1_ENST00000570010.1_Missense_Mutation_p.P267S|ZFP1_ENST00000332307.4_Missense_Mutation_p.P234S|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GGAGAAGAAGCCCTATGAGTG	0.468000													19	16					0	0	0.00152264	0	0
DYNAP	284254	broad.mit.edu	37	18	52262289	52262289	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:52262289C>T	ENST00000321600.1	+	2	301	c.255C>T	c.(253-255)atC>atT	p.I85I	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		ACCCAGGAATCCTTGCACATT	0.453000													12	30					0	0	0.00185496	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349771	25349771	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:25349771C>T	ENST00000546682.1	+	0	2241				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GTTCAAAGTCCCTTTTATAAA	0.443000													5	12					0	0	0.00116845	0	0
PER3	8863	broad.mit.edu	37	1	7861197	7861197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7861197G>A	ENST00000377532.3	+	7	1042	c.818G>A	c.(817-819)aGa>aAa	p.R273K	PER3_ENST00000377541.1_Missense_Mutation_p.R272K|PER3_ENST00000361923.2_Missense_Mutation_p.R272K			P56645	PER3_HUMAN	period circadian clock 3	272	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAATAAAAGAATCTTCACC	0.333000													68	94					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141759659	141759659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:141759659C>T	ENST00000475668.2	+	33	4006	c.3952C>T	c.(3952-3954)Cca>Tca	p.P1318S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1318S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1318	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTTCAGGATCCAGCCATTTC	0.478000													7	8					0	0	0.000274275	0	0
COL14A1	7373	broad.mit.edu	37	8	121295969	121295969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:121295969G>A	ENST00000297848.3	+	32	4189	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1307K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1212K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1307	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCTTTGGGAGATTTTAAA	0.383000													35	35					0	0	0.00058488	0	0
STARD10	10809	broad.mit.edu	37	11	72466782	72466782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:72466782C>T	ENST00000334805.6	-	6	1513	c.594G>A	c.(592-594)tgG>tgA	p.W198*	STARD10_ENST00000545082.1_Nonsense_Mutation_p.W169*|STARD10_ENST00000543304.1_Nonsense_Mutation_p.W198*|STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538536.1_Nonsense_Mutation_p.W152*	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	198	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TATTCACCACCCACTTGGGTA	0.582000													55	80					0	0	0.000781405	0	0
LILRP2	79166	broad.mit.edu	37	19	55221525	55221525	+	RNA	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55221525C>T	ENST00000413439.1	+	0	1305																											GCCAACTTCACCCTGGGCCCT	0.647000													11	12					0	0	0.00136819	0	0
IKBKAP	8518	broad.mit.edu	37	9	111658840	111658840	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111658840T>G	ENST00000374647.5	-	25	2979	c.2672A>C	c.(2671-2673)tAt>tCt	p.Y891S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.Y542S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	891					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAATGATCATATAATTCATT	0.403000													12	26					0	0	0.000978159	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585316	4585316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:4585316C>T	ENST00000262352.3	+	12	1569	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	445					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCCCAGGGACCGGTTCAGGAC	0.507000													30	37					0	0	0.00283554	0	0
ACACB	32	broad.mit.edu	37	12	109671600	109671600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109671600C>T	ENST00000338432.7	+	30	4306	c.4187C>T	c.(4186-4188)aCc>aTc	p.T1396I	ACACB_ENST00000377854.5_Missense_Mutation_p.T1326I|ACACB_ENST00000377848.3_Missense_Mutation_p.T1396I|ACACB_ENST00000543201.1_Missense_Mutation_p.T62I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1396					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCAAAGACACCCCCCTCTTC	0.612000													16	46					0	0	0.00121646	0	0
KIF23	9493	broad.mit.edu	37	15	69728068	69728068	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:69728068C>T	ENST00000260363.4	+	12	1347	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	KIF23_ENST00000558585.1_Silent_p.I227I|KIF23_ENST00000395392.2_Silent_p.I410I|KIF23_ENST00000559279.1_Silent_p.I410I|KIF23_ENST00000352331.4_Silent_p.I410I|KIF23_ENST00000537891.1_Silent_p.I227I	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	410					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGCGGATGATCGTGTGTGTGA	0.368000													35	44					0	0	0.00058488	0	0
OR4X2	119764	broad.mit.edu	37	11	48267210	48267210	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48267210C>T	ENST00000302329.3	+	1	603	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGACACCTTCCTCATTGGTC	0.483000													49	77					0	0	0.000781405	0	0
RBM25	58517	broad.mit.edu	37	14	73538420	73538420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:73538420C>T	ENST00000261973.7	+	2	356	c.71C>T	c.(70-72)cCg>cTg	p.P24L	RBM25_ENST00000540173.1_Missense_Mutation_p.P24L|RBM25_ENST00000527432.1_Missense_Mutation_p.P24L|RBM25_ENST00000526754.1_Missense_Mutation_p.P24L|RBM25_ENST00000525321.1_Missense_Mutation_p.P24L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	24					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATCCCACCCCCGCAGTTTCCA	0.448000													29	45					0	0	0.00283554	0	0
UBTF	7343	broad.mit.edu	37	17	42288974	42288974	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:42288974C>T	ENST00000302904.4	-	10	1539	c.1047_splice	c.e10+1	p.Q349_splice	UBTF_ENST00000436088.1_Splice_Site_p.Q349_splice|UBTF_ENST00000393606.3_Splice_Site_p.Q312_splice|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Splice_Site_p.Q312_splice|UBTF_ENST00000526094.1_Splice_Site_p.Q312_splice|UBTF_ENST00000527034.1_Splice_Site_p.Q312_splice|UBTF_ENST00000343638.5_Splice_Site_p.Q312_splice|UBTF_ENST00000529383.1_Splice_Site_p.Q349_splice			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	349					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACAGCTCACCTGATCACACT	0.597000													55	135					0	0	0.000781405	0	0
ZNF608	57507	broad.mit.edu	37	5	123983901	123983901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:123983901C>T	ENST00000306315.5	-	4	2611	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	ZNF608_ENST00000504926.1_Missense_Mutation_p.D299N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	726						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGGTTTTTGTCCGTTTTGCAG	0.473000													21	24					0	0	0.00121646	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348166	140348166	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140348166C>T	ENST00000289269.5	+	1	2347	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		605	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGTCACCAAAGTCATAG	0.517000													18	40					0	0	0.00152264	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451258	87451258	+	Silent	SNP	A	A	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:87451258A>C	ENST00000268616.4	-	8	997	c.780T>G	c.(778-780)ccT>ccG	p.P260P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	260					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGAGCAGTGAGGCAAGGGGG	0.692000													32	51					0	0	0.00178596	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													12	31					0	0	0.00185496	0	0
GALNT2	2590	broad.mit.edu	37	1	230338946	230338946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:230338946G>A	ENST00000366672.4	+	3	356	c.284G>A	c.(283-285)gGg>gAg	p.G95E	GALNT2_ENST00000541865.1_Missense_Mutation_p.G5E|GALNT2_ENST00000543760.1_Missense_Mutation_p.G57E	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	95					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCCGCTCCGGGCAGGACCCT	0.547000													36	104					0	0	0.00283554	0	0
KIF14	9928	broad.mit.edu	37	1	200559285	200559285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:200559285C>T	ENST00000367350.4	-	17	3367	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	977	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTTGCTTTCATATGCAGCT	0.378000													43	145					0	0	0.000781405	0	0
ENAH	55740	broad.mit.edu	37	1	225702311	225702311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:225702311C>T	ENST00000366844.2	-	7	1656	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	ENAH_ENST00000284563.6_Missense_Mutation_p.R649K|ENAH_ENST00000366843.2_Missense_Mutation_p.R402K	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	402	EVH2 block A.|EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TGACACTTTCCTAAGTTTTGC	0.373000													23	62					0	0	0.00278032	0	0
SCN1A	6323	broad.mit.edu	37	2	166905446	166905446	+	Silent	SNP	G	G	A	rs148669964		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:166905446G>A	ENST00000423058.2	-	7	995	c.978C>T	c.(976-978)ttC>ttT	p.F326F	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.F326F|SCN1A_ENST00000375405.3_Silent_p.F326F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F326F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	326						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F326F(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACCCTCCAGGAAATAATGAT	0.333000													7	14					0	0	0.000442599	0	0
IQCF2	389123	broad.mit.edu	37	3	51897327	51897327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:51897327G>A	ENST00000333127.3	+	3	465	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	146										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTCCTCCAGGGCCACTGTGT	0.562000													37	68					0	0	0.00111076	0	0
USP9Y	8287	broad.mit.edu	37	Y	14848359	14848359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrY:14848359C>T	ENST00000338981.3	+	10	1985	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	347					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTGCAAATTTCCTCTTTTAAT	0.294000													16	1					0	0	0.000566183	0	0
AHNAK	79026	broad.mit.edu	37	11	62296332	62296332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62296332G>A	ENST00000378024.4	-	5	5831	c.5557C>T	c.(5557-5559)Ccc>Tcc	p.P1853S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1853					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCCTTGAAG	0.512000													78	121					0	0	0.000781405	0	0
MACC1	346389	broad.mit.edu	37	7	20199263	20199263	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:20199263C>G	ENST00000400331.5	-	5	1029	c.721G>C	c.(721-723)Gtg>Ctg	p.V241L	MACC1_ENST00000332878.4_Missense_Mutation_p.V241L|MACC1_ENST00000589011.1_Missense_Mutation_p.V241L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	241					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCCACAGCCACATGACCTTGG	0.488000													14	40					0	0	0.000422831	0	0
PRR23A	729627	broad.mit.edu	37	3	138724463	138724463	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:138724463G>A	ENST00000383163.2	-	1	647	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662000													6	11					0	0	0.000157383	0	0
MROH9	80133	broad.mit.edu	37	1	170931075	170931075	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:170931075G>A	ENST00000367759.4	+	6	487	c.333G>A	c.(331-333)acG>acA	p.T111T	MROH9_ENST00000367758.3_Silent_p.T111T	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.T111T(1)									ACATTCTTACGAGCTTGGTGT	0.308000													14	37					0	0	0.00074312	0	0
F11	2160	broad.mit.edu	37	4	187209625	187209625	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:187209625C>T	ENST00000264692.4	+	15	1912	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Silent_p.L579L			P03951	FA11_HUMAN	coagulation factor XI	579	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGGAGGCCCTCTGTCCTGCAA	0.547000													56	72					0	0	0.000781405	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740377	140740377	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140740377G>A	ENST00000522605.1	+	1	675	c.675G>A	c.(673-675)acG>acA	p.T225T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGCACGACCCAAATCC	0.542000													45	31					0	0	0.000781405	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053556	5053556	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:5053556C>G	ENST00000251170.7	+	11	1464	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	428	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCGAGTCTTCCCCGTGCTCT	0.652000													14	25					0	0	0.000566183	0	0
SGCA	6442	broad.mit.edu	37	17	48245370	48245370	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48245370G>A	ENST00000262018.3	+	4	411	c.375G>A	c.(373-375)ggG>ggA	p.G125G	SGCA_ENST00000451235.2_Silent_p.G23G|SGCA_ENST00000344627.6_Silent_p.G125G|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000543315.1_Silent_p.G125G	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	125					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TGGAGATTGGGGACCCAGAAG	0.602000													27	65					0	0	0.00106085	0	0
CDSN	1041	broad.mit.edu	37	6	31083847	31083847	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:31083847G>A	ENST00000376288.2	-	2	1571	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	515					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AAACTTCAGGGTCAGCTAGCT	0.542000													15	29					0	0	0.000308642	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													62	131					0	0	0.000781405	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810351	106810351	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:106810351C>T	ENST00000526355.1	-	4	1509	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	GUCY1A2_ENST00000282249.2_Silent_p.R347R|GUCY1A2_ENST00000347596.2_Silent_p.R347R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	347					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAAGCTGCTTCCTTAGACCTT	0.483000													10	15					0	0	0.000442599	0	0
DNAH10	196385	broad.mit.edu	37	12	124265689	124265689	+	Silent	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:124265689T>G	ENST00000409039.3	+	6	526	c.501T>G	c.(499-501)tcT>tcG	p.S167S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	167	Stem (By similarity).		S -> P (in dbSNP:rs11057353).		microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGTCACATCTGGAGAAGTCT	0.428000													44	90					0	0	0.0025221	0	0
PLCL1	5334	broad.mit.edu	37	2	198950623	198950623	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:198950623C>T	ENST00000428675.1	+	2	2780	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	PLCL1_ENST00000437704.2_Silent_p.I696I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	794	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGCCATGATCCGTTTTGTTG	0.403000													25	47					0	0	0.00178596	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374579	6374579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6374579C>T	ENST00000245812.3	+	3	870	c.482C>T	c.(481-483)cCg>cTg	p.P161L	ALKBH7_ENST00000599849.1_Missense_Mutation_p.P100L|ALKBH7_ENST00000596657.1_Missense_Mutation_p.P19L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	161						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCTGGAGCCGGGCTCCCTC	0.642000													7	20					0	0	0.00198382	0	0
OR51G2	81282	broad.mit.edu	37	11	4936324	4936324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4936324C>T	ENST00000322013.3	-	1	598	c.570G>A	c.(568-570)atG>atA	p.M190I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAATTTCATCACTTCTT	0.448000													8	18					0	0	0.000157383	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745801	140745801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140745801G>A	ENST00000518069.1	+	1	1904	c.1904G>A	c.(1903-1905)aGa>aAa	p.R635K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGACAGAGACGCGCTC	0.672000													45	52					0	0	0.000781405	0	0
CACNA1C	775	broad.mit.edu	37	12	2705039	2705039	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:2705039G>A	ENST00000399655.1	+	20	2928		c.e20-1		CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000480911.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCCCGTACAGGTTTCGCCTC	0.577000													28	28					0	0	0.001512	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778246	34778246	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:34778246G>A	ENST00000338074.2	+	10	1235	c.1074G>A	c.(1072-1074)cgG>cgA	p.R358R	EPB41L1_ENST00000373941.1_Silent_p.R358R|EPB41L1_ENST00000373950.2_Silent_p.R261R|EPB41L1_ENST00000441639.1_Silent_p.R296R|EPB41L1_ENST00000373946.3_Silent_p.R327R|EPB41L1_ENST00000202028.5_Silent_p.R296R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	358	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAAACCACCGGTCAGCCAAGA	0.537000													45	29					0	0	0.000781405	0	0
HSF5	124535	broad.mit.edu	37	17	56544271	56544271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:56544271G>A	ENST00000323777.3	-	3	1104	c.995C>T	c.(994-996)tCc>tTc	p.S332F		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGCATAGGAAGAGGCATT	0.438000													77	67					0	0	0.000781405	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519694	137519694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:137519694G>A	ENST00000367739.4	-	7	1065	c.944C>T	c.(943-945)tCc>tTc	p.S315F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S287F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	315					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTTTCTAAGGAAAATGGCTG	0.423000													8	6					0	0	0.000157383	0	0
CWH43	80157	broad.mit.edu	37	4	49032922	49032922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:49032922G>A	ENST00000226432.4	+	11	1636	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CWH43_ENST00000513409.1_Missense_Mutation_p.E458K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	485					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTGGCTAGGGGAAAAGTTGGG	0.418000													41	67					0	0	0.00285205	0	0
SEC24C	9632	broad.mit.edu	37	10	75530142	75530142	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75530142C>T	ENST00000339365.2	+	22	3129	c.2967C>T	c.(2965-2967)ctC>ctT	p.L989L	SEC24C_ENST00000540668.1_Silent_p.L237L|SEC24C_ENST00000535742.1_Silent_p.L237L|SEC24C_ENST00000411652.2_Silent_p.L870L|SEC24C_ENST00000345254.4_Silent_p.L989L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	989					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGCTCAACCTCTTCCTCTGGG	0.532000													109	189					0	0	0.000781405	0	0
GNAS	2778	broad.mit.edu	37	20	57430064	57430064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57430064G>A	ENST00000371100.4	+	1	2296	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.P518P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D582N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D582N	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGACGAGTCCGACGATGGGAC	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	32					0	0	0.000442599	0	0
TRBV9	28586	broad.mit.edu	37	7	142239805	142239805	+	RNA	SNP	T	T	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142239805T>A	ENST00000390363.2	-	0	121																											GCTTTGGGGTTTGTGTGACTC	0.532000													10	17					0	0	0.00185496	0	0
FOSB	2354	broad.mit.edu	37	19	45974281	45974281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45974281G>A	ENST00000590335.1	+	2	1112	c.521G>A	c.(520-522)gGg>gAg	p.G174E	FOSB_ENST00000586615.1_Intron|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000417353.2_Intron|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000592811.1_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000353609.3_Intron|ERCC1_ENST00000423698.2_Intron			P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	0					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		ATGAATGGAGGGGGGCTCCAC	0.552000													3	3					0	0	6.4e-05	0	0
PRB2	653247	broad.mit.edu	37	12	11545984	11545984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:11545984C>T	ENST00000389362.4	-	3	1063	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.597000													50	93					0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38591832	38591832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38591832C>T	ENST00000413689.1	-	28	6224	c.6031G>A	c.(6031-6033)Gac>Aac	p.D2011N	SCN5A_ENST00000333535.4_Missense_Mutation_p.D2011N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1957N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1978N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1957N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1957N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D2010N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1993N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D2010N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1993N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2011					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCACGGTCCCTGTCCGGA	0.572000													53	58					0	0	0.000781405	0	0
HABP2	3026	broad.mit.edu	37	10	115334134	115334134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:115334134C>T	ENST00000351270.3	+	3	289	c.193C>T	c.(193-195)Cct>Tct	p.P65S	HABP2_ENST00000537906.1_Silent_p.I53I|HABP2_ENST00000542051.1_Missense_Mutation_p.P39S|HABP2_ENST00000541666.1_Missense_Mutation_p.P65S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	65					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.P65T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CGCTGAGAATCCTGACTGGTA	0.507000													19	35					0	0	0.00188189	0	0
BSDC1	55108	broad.mit.edu	37	1	32842272	32842272	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:32842272G>A	ENST00000341071.7	-	9	809	c.798C>T	c.(796-798)ttC>ttT	p.F266F	BSDC1_ENST00000413080.1_Silent_p.F188F|BSDC1_ENST00000449308.1_Silent_p.F249F|BSDC1_ENST00000455895.2_Silent_p.F249F|BSDC1_ENST00000526031.1_Silent_p.F154F|BSDC1_ENST00000446293.2_Silent_p.F266F|BSDC1_ENST00000419121.2_Silent_p.F193F			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	249							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCCTTCAGGGAATGTAGAAA	0.532000													33	40					0	0	0.00058488	0	0
C9	735	broad.mit.edu	37	5	39315879	39315879	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:39315879T>G	ENST00000263408.4	-	6	963	c.868A>C	c.(868-870)Aag>Cag	p.K290Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	290	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTCTTACCTTCTTTGAAGAA	0.313000													6	12					0	0	0.00116845	0	0
EMR3	84658	broad.mit.edu	37	19	14772823	14772823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:14772823G>A	ENST00000253673.5	-	4	407	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	103	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCCAGAATGCAGTCTATAT	0.398000													24	40					0	0	0.00047179	0	0
UBR1	197131	broad.mit.edu	37	15	43237663	43237663	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43237663C>A	ENST00000290650.4	-	47	5192	c.5114G>T	c.(5113-5115)gGc>gTc	p.G1705V	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1705					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAGGGGGTTGCCCCTCCTTTA	0.403000													14	26					2.32078e-09	8.83179e-09	0.000308642	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725321	68725321	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68725321C>T	ENST00000283916.6	-	2	182	c.84G>A	c.(82-84)gtG>gtA	p.V28V	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	28					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCAGGATCACTACCCCTG	0.383000													18	16					0	0	0.000958276	0	0
SCN11A	11280	broad.mit.edu	37	3	38892117	38892117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38892117C>T	ENST00000302328.3	-	25	4380	c.4182G>A	c.(4180-4182)atG>atA	p.M1394I	SCN11A_ENST00000456224.3_Missense_Mutation_p.M1356I|SCN11A_ENST00000444237.2_Missense_Mutation_p.M1394I|SCN11A_ENST00000450244.1_Missense_Mutation_p.M1394I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1394					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGATGGATTTCATGGCTTTGG	0.388000													29	58					0	0	0.00178596	0	0
MCTP1	79772	broad.mit.edu	37	5	94259726	94259726	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:94259726C>T	ENST00000515393.1	-	7	1212	c.1212_splice	c.e7-1	p.E405_splice	MCTP1_ENST00000312216.8_Splice_Site_p.E184_splice|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000505208.1_Splice_Site_p.E184_splice|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	405					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTGAAAGTTCCTAGAAACAA	0.264000													23	33					0	0	0.00047179	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:188925302G>A	ENST00000345063.3	+	2	296	c.129G>A	c.(127-129)agG>agA	p.R43R	TPRG1_ENST00000433971.1_Silent_p.R43R	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000													20	39					0	0	0.00229938	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561339	44561339	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:44561339G>A	ENST00000332567.4	-	1	649	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	99					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGCCTCCCCGAAGCGCTGTC	0.657000													20	33					0	0	0.00121646	0	0
SVIL	6840	broad.mit.edu	37	10	29839933	29839933	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:29839933C>T	ENST00000375398.2	-	8	869	c.420G>A	c.(418-420)agG>agA	p.R140R	SVIL_ENST00000375400.3_Silent_p.R140R|SVIL_ENST00000355867.4_Silent_p.R140R			O95425	SVIL_HUMAN	supervillin	140	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGGCTCCTTCCTGGACTTGG	0.542000													21	43					0	0	0.00152264	0	0
UBA6	55236	broad.mit.edu	37	4	68543347	68543347	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68543347G>A	ENST00000322244.4	-	6	506	c.447C>T	c.(445-447)tcC>tcT	p.S149S	UBA6_ENST00000420827.2_Silent_p.S149S	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	149					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TATCTAAAAAGGAGAGATCTG	0.313000													19	30					0	0	0.000958276	0	0
USH2A	7399	broad.mit.edu	37	1	216424377	216424377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:216424377C>T	ENST00000366943.2	-	12	2421	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	USH2A_ENST00000366942.3_Missense_Mutation_p.G679R|USH2A_ENST00000307340.3_Missense_Mutation_p.G679R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	679	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G679R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTAGAATCCATTCTGGCAC	0.438000										HNSCC(13;0.011)			17	30					0	0	0.00188189	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724757	38724757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:38724757C>T	ENST00000342213.2	-	1	817	c.471G>A	c.(469-471)tgG>tgA	p.W157*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	157	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCATCTCCTTCCAGCCTGCGG	0.672000													23	22					0	0	0.00127121	0	0
KDR	3791	broad.mit.edu	37	4	55956205	55956205	+	Missense_Mutation	SNP	G	G	A	rs148668147		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:55956205G>A	ENST00000263923.4	-	23	3405	c.3110C>T	c.(3109-3111)tCg>tTg	p.S1037L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCTTCTCCGATAAGAGGAT	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			23	42					0	0	0.000586117	0	0
RABL3	285282	broad.mit.edu	37	3	120424951	120424951	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:120424951G>A	ENST00000273375.3	-	4	308	c.279C>T	c.(277-279)ttC>ttT	p.F93F	RABL3_ENST00000483733.1_Silent_p.F93F|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	93	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AGTCGTGTACGAAAATAATAC	0.378000													22	33					0	0	0.00188189	0	0
MRE11A	4361	broad.mit.edu	37	11	94204767	94204767	+	Missense_Mutation	SNP	G	G	A	rs143400546	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94204767G>A	ENST00000323929.3	-	8	1040	c.818C>T	c.(817-819)tCt>tTt	p.S273F	MRE11A_ENST00000407439.3_Missense_Mutation_p.S276F|MRE11A_ENST00000393241.4_Missense_Mutation_p.S273F|MRE11A_ENST00000323977.3_Missense_Mutation_p.S273F	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	273					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGGGGAAAGAGAAGTAACCAC	0.358000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				20	27					0	0	0.00188189	0	0
LHX3	8022	broad.mit.edu	37	9	139089572	139089572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:139089572C>T	ENST00000371746.3	-	6	926	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	LHX3_ENST00000371748.5_Missense_Mutation_p.E265K	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	265					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGGCCCATTTCCGCCAAGGAA	0.682000													5	10					0	0	0.00198382	0	0
COL6A3	1293	broad.mit.edu	37	2	238280335	238280335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238280335G>A	ENST00000392004.3	-	8	3961	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S1035F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000295550.4_Intron	NM_057165.4	NP_476506.3	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	0	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTTCATATGGAAAATGCTCC	0.433000													35	85					0	0	0.0025221	0	0
XIST	7503	broad.mit.edu	37	X	73070714	73070714	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:73070714G>A	ENST00000429829.1	-	0	1874					NR_001564.2																						GGACAGGAGGGGACAAATAAG	0.527000													6	2					0	0	0.00116845	0	0
GPA33	10223	broad.mit.edu	37	1	167023580	167023580	+	Silent	SNP	G	G	A	rs35152579		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167023580G>A	ENST00000367868.3	-	7	1294	c.951C>T	c.(949-951)ctC>ctT	p.L317L	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	317						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCACTGGTCGAGGTGGTCCG	0.592000													25	74					0	0	0.00209593	0	0
LIM2	3982	broad.mit.edu	37	19	51883763	51883763	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51883763G>A	ENST00000221973.3	-	4	624	c.582C>T	c.(580-582)ttC>ttT	p.F194F	LIM2_ENST00000596399.1_Silent_p.F152F	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	152					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.F194F(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CAGTACCTGCGAAGAACGTCA	0.617000													46	87					0	0	0.000781405	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873824	48873824	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:48873824G>A	ENST00000394754.1	+	8	2847	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	GTF2A1L_ENST00000430487.2_Silent_p.R173R|STON1-GTF2A1L_ENST00000405008.1_Silent_p.R911R|GTF2A1L_ENST00000403751.3_Silent_p.R207R|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R911R|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R864R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R911R|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		864					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTAGATAGGAAACACTTAG	0.413000													25	33					0	0	0.000720815	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410440	10410440	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:10410440G>A	ENST00000379613.3	-	2	436	c.180C>T	c.(178-180)ttC>ttT	p.F60F	TFAP2A_ENST00000379608.3_Silent_p.F52F|TFAP2A_ENST00000379604.2_Silent_p.F58F|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000319516.4_Silent_p.F54F|TFAP2A_ENST00000482890.1_Silent_p.F58F|RP1-290I10.6_ENST00000420777.1_RNA			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	58	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGTGGGGGGAAGTATGGGG	0.662000													20	14					0	0	0.00278032	0	0
TRAF1	7185	broad.mit.edu	37	9	123676003	123676003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123676003G>A	ENST00000373887.3	-	5	2753	c.308C>T	c.(307-309)tCt>tTt	p.S103F	TRAF1_ENST00000546084.1_5'UTR|TRAF1_ENST00000540010.1_Missense_Mutation_p.S103F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	103					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CTCTTGCACAGACTGTGGGCT	0.577000													20	28					0	0	0.00229938	0	0
CSMD1	64478	broad.mit.edu	37	8	2800022	2800022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:2800022C>T	ENST00000602557.1	-	70	11065	c.10510G>A	c.(10510-10512)Ggg>Agg	p.G3504R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3327R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3503R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3327R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3504R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3326R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3504						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATGCAAACCCTGATAAAATT	0.438000													7	6					0	0	0.000157383	0	0
CGNL1	84952	broad.mit.edu	37	15	57745996	57745996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:57745996G>A	ENST00000281282.5	+	7	2248	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	724						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGGACAGGGAGAAGGGAGC	0.562000													9	28					0	0	0.00136819	0	0
FCGBP	8857	broad.mit.edu	37	19	40419872	40419872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:40419872C>T	ENST00000221347.6	-	6	3129	c.3122G>A	c.(3121-3123)gGa>gAa	p.G1041E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1041	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTCAGTTGCTCCACAGCCGGG	0.637000													17	26					0	0	0.00074312	0	0
OBSCN	84033	broad.mit.edu	37	1	228486336	228486336	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228486336C>T	ENST00000570156.2	+	49	13202	c.13128C>T	c.(13126-13128)atC>atT	p.I4376I	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Silent_p.I1066I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3419	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTGCAGATCCATGACCTGT	0.577000													36	62					0	0	0.000953801	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40980866C>T	ENST00000373198.3	-	10	1855	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_ENST00000373187.1_Silent_p.G540G|PTPRT_ENST00000373193.3_Silent_p.G540G|PTPRT_ENST00000373201.1_Silent_p.G540G|PTPRT_ENST00000373190.1_Silent_p.G540G|PTPRT_ENST00000373184.1_Silent_p.G540G|PTPRT_ENST00000356100.2_Silent_p.G540G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	540	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAACACTTTCCCCCTCTGGC	0.527000													86	53					0	0	0.000781405	0	0
ACLY	47	broad.mit.edu	37	17	40042418	40042418	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:40042418G>A	ENST00000352035.2	-	18	2149	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ACLY_ENST00000537919.1_Silent_p.I402I|ACLY_ENST00000393896.2_Silent_p.I663I|ACLY_ENST00000590151.1_Silent_p.I673I|ACLY_ENST00000353196.1_Silent_p.I663I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	673					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCCGAGAGATGATATTGTTGA	0.582000													133	116					0	0	0.000781405	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513355	89513355	+	RNA	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:89513355G>A	ENST00000498435.1	-	0	58																											AGGAGTCCCAGGAGCTGAGCA	0.507000													18	29					0	0	0.00152264	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308459	99308459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:99308459C>T	ENST00000336374.2	-	10	924	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTCGTGGTTTCATAGCCAGCA	0.408000													16	15					0	0	0.00074312	0	0
AMBRA1	55626	broad.mit.edu	37	11	46534347	46534347	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:46534347A>G	ENST00000458649.2	-	8	2507	c.2089T>C	c.(2089-2091)Tcc>Ccc	p.S697P	AMBRA1_ENST00000314845.3_Missense_Mutation_p.S607P|AMBRA1_ENST00000426438.1_Intron|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S697P|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S697P|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000528950.1_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	697					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATGAGGGAAGATTCCAGC	0.443000													40	60					0	0	0.000781405	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:31323938G>A	ENST00000580599.1	+	4	623	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R|SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R|SPACA3_ENST00000394637.2_3'UTR			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000													33	73					0	0	0.000953801	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928513	56928513	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:56928513C>T	ENST00000438926.2	+	22	2648	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	SLC12A3_ENST00000566786.1_Silent_p.F872F|SLC12A3_ENST00000563236.1_Silent_p.F864F|SLC12A3_ENST00000262502.5_Silent_p.F863F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	864					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582000													17	27					0	0	0.00152264	0	0
IL31RA	133396	broad.mit.edu	37	5	55212722	55212722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:55212722C>T	ENST00000447346.2	+	15	2134	c.2069C>T	c.(2068-2070)cCa>cTa	p.P690L	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.P548L|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	658					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGGAGCTCCCAGTTTCACCT	0.522000													22	33					0	0	0.00229938	0	0
CDH13	1012	broad.mit.edu	37	16	83711825	83711825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:83711825G>A	ENST00000566620.1	+	10	1587	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	CDH13_ENST00000268613.10_Missense_Mutation_p.E480K|CDH13_ENST00000428848.3_Missense_Mutation_p.E394K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	433	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATTGGACTATGAAATTTCTGC	0.527000													20	23					0	0	0.00047179	0	0
APOBR	55911	broad.mit.edu	37	16	28508931	28508931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:28508931C>T	ENST00000564831.1	+	2	2602	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S	APOBR_ENST00000328423.5_Missense_Mutation_p.P848S|APOBR_ENST00000431282.1_Missense_Mutation_p.P848S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	848	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGGGCTGGATCCCGCGGGCTC	0.637000													9	4					0	0	0.000442599	0	0
KCNH2	3757	broad.mit.edu	37	7	150648062	150648062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:150648062C>T	ENST00000392968.2	-	6	2924	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KCNH2_ENST00000330883.4_Missense_Mutation_p.E358K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E698K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E698K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	698					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGTACTCCTCGAGGCGCTGG	0.652000													12	20					0	0	0.00244969	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995337	10995337	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:10995337C>T	ENST00000354666.3	-	5	491	c.408G>A	c.(406-408)cgG>cgA	p.R136R		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	136					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCGTTTTTTTCCGCAAAACGA	0.378000													34	61					0	0	0.000814825	0	0
STAB2	55576	broad.mit.edu	37	12	104067779	104067779	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104067779C>T	ENST00000388887.2	+	23	2670	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	822					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGGGAGACTCTGTGATAAGC	0.562000													20	40					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9087450	9087450	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9087450G>T	ENST00000397910.4	-	1	4568	c.4365C>A	c.(4363-4365)ctC>ctA	p.L1455L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1455	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCCATGGGGAGAGTGATTG	0.488000													39	40					3.21399e-22	1.23158e-21	0.000953801	1	0
GYPC	2995	broad.mit.edu	37	2	127453565	127453565	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:127453565C>T	ENST00000259254.4	+	4	565	c.234C>T	c.(232-234)ttC>ttT	p.F78F	GYPC_ENST00000356887.7_Silent_p.F57F|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Silent_p.F59F	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	78						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCTCCTCTTCGTCATGCTGC	0.612000													37	65					0	0	0.000781405	0	0
FGF5	2250	broad.mit.edu	37	4	81207508	81207508	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:81207508G>A	ENST00000312465.7	+	3	715	c.489G>A	c.(487-489)agG>agA	p.R163R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	163					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCAAGTTCAGGGAGCGTTTTC	0.393000													61	83					0	0	0.000781405	0	0
ZNF808	388558	broad.mit.edu	37	19	53058004	53058004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:53058004C>T	ENST00000359798.4	+	5	2015	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTCTTGAGTCACATAAGAGA	0.408000													25	39					0	0	0.00047179	0	0
RAD23A	5886	broad.mit.edu	37	19	13059911	13059911	+	Missense_Mutation	SNP	C	C	T	rs139644856		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13059911C>T	ENST00000586534.1	+	6	678	c.617C>T	c.(616-618)cCc>cTc	p.P206L	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.P206L|RAD23A_ENST00000592268.1_Missense_Mutation_p.P206L|RAD23A_ENST00000541222.1_Missense_Mutation_p.P41L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	206					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCTGGGAGCCCCGAGCCGGAA	0.622000								Nucleotide excision repair (NER)					4	8					0	0	0.000602214	0	0
OR8B2	26595	broad.mit.edu	37	11	124252431	124252431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124252431C>T	ENST00000375013.2	-	1	827	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAAACTTTTCCCTGCTCCAT	0.423000													6	18					0	0	0.000673444	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279598	217279598	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:217279598C>T	ENST00000357276.4	+	3	501	c.171C>T	c.(169-171)ttC>ttT	p.F57F	SMARCAL1_ENST00000358207.5_Silent_p.F57F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	57					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCCAAAATTTCCCAAGGGAGT	0.498000									Schimke Immuno-Osseous Dysplasia				57	84					0	0	0.000781405	0	0
OR4A47	403253	broad.mit.edu	37	11	48510571	48510571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48510571C>T	ENST00000446524.1	+	1	303	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCATCCATTTCCCCCAGATTG	0.423000													18	44					0	0	0.000566183	0	0
FAT4	79633	broad.mit.edu	37	4	126238442	126238442	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:126238442G>A	ENST00000394329.3	+	1	889	c.876G>A	c.(874-876)gaG>gaA	p.E292E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAGGACGAGGGGACCCCCT	0.667000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	19					0	0	0.000566183	0	0
DNAH10	196385	broad.mit.edu	37	12	124325937	124325937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:124325937G>A	ENST00000409039.3	+	29	4876	c.4851G>A	c.(4849-4851)atG>atA	p.M1617I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1617	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M209I(1)|p.M1617I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTCCGCGATGATTTCAGCAG	0.502000													101	129					0	0	0.000781405	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203733	19203733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:19203733G>A	ENST00000263200.10	-	19	3025	c.2953C>T	c.(2953-2955)Cct>Tct	p.P985S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.P985S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.P985S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	985	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCTCTTCAGGATCCCGTGTT	0.398000			T	?	ALCL								25	35					0	0	0.00178596	0	0
TMEM74	157753	broad.mit.edu	37	8	109797193	109797193	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:109797193C>T	ENST00000297459.3	-	2	313	c.135G>A	c.(133-135)caG>caA	p.Q45Q	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	45					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TGGATGCACACTGTTTCTGAC	0.547000													30	53					0	0	0.00209593	0	0
ANO1	55107	broad.mit.edu	37	11	69934100	69934100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:69934100G>A	ENST00000355303.5	+	2	656	c.351G>A	c.(349-351)atG>atA	p.M117I	ANO1_ENST00000538023.1_Missense_Mutation_p.M117I|ANO1_ENST00000530676.1_Start_Codon_SNP_p.M1I|ANO1_ENST00000398543.2_Start_Codon_SNP_p.M1I|ANO1_ENST00000316296.5_Missense_Mutation_p.M89I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	117					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGCCCCCGATGGACTACCACG	0.682000													5	5					0	0	0.00116845	0	0
KAT2B	8850	broad.mit.edu	37	3	20178515	20178515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:20178515G>A	ENST00000263754.4	+	12	2286	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	611	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATATGCAGATGAATATGCAAT	0.383000													20	31					0	0	0.00229938	0	0
ARID2	196528	broad.mit.edu	37	12	46298733	46298733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:46298733G>T	ENST00000334344.6	+	21	5552	c.5380G>T	c.(5380-5382)Gaa>Taa	p.E1794*	ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E1404*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1794					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGAGACATGAAAATAACTT	0.348000			"""N, S, F"""		hepatocellular carcinoma								26	25					7.26314e-15	2.77165e-14	0.00127121	1	0
ACTR2	10097	broad.mit.edu	37	2	65488384	65488384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:65488384C>T	ENST00000260641.5	+	7	896	c.739C>T	c.(739-741)Cca>Tca	p.P247S	ACTR2_ENST00000377982.4_Missense_Mutation_p.P252S|ACTR2_ENST00000542850.1_Missense_Mutation_p.P192S	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	247					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTTCTAGCTCCCAGATGGACG	0.393000													15	22					0	0	0.00074312	0	0
CIB2	10518	broad.mit.edu	37	15	78401717	78401717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:78401717G>A	ENST00000258930.3	-	4	534	c.206C>T	c.(205-207)cCc>cTc	p.P69L	CIB2_ENST00000539011.1_Missense_Mutation_p.P26L|CIB2_ENST00000557846.1_Missense_Mutation_p.P20L|CIB2_ENST00000560618.1_Missense_Mutation_p.P26L	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	69	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TTCTTTGAAGGGATTCTCCTG	0.552000													29	31					0	0	0.000953801	0	0
EPHA6	285220	broad.mit.edu	37	3	97454904	97454904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:97454904C>T	ENST00000389672.5	+	16	3108	c.3070C>T	c.(3070-3072)Ctt>Ttt	p.L1024F		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	929	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTCAGCTTCCTTGACAAACT	0.463000													5	11					0	0	0.00116845	0	0
USP26	83844	broad.mit.edu	37	X	132161704	132161704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:132161704C>T	ENST00000511190.1	-	6	1014	c.545G>A	c.(544-546)aGa>aAa	p.R182K	USP26_ENST00000406273.1_Missense_Mutation_p.R182K|USP26_ENST00000370832.1_Missense_Mutation_p.R182K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	182					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGAGAGCATTCTTTTCCTCTT	0.403000													22	3					0	0	0.000720815	0	0
OR6C2	341416	broad.mit.edu	37	12	55846409	55846409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:55846409G>A	ENST00000322678.1	+	1	412	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAACAACAGGGTGTGTACCTT	0.468000													15	33					0	0	0.000308642	0	0
ITGA11	22801	broad.mit.edu	37	15	68643005	68643005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:68643005G>A	ENST00000423218.2	-	9	1105	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	ITGA11_ENST00000315757.7_Missense_Mutation_p.A337V			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	337	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTCCTTCAAGGCAGCCTCATC	0.483000													16	44					0	0	0.000958276	0	0
DLX3	1747	broad.mit.edu	37	17	48069074	48069074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48069074G>A	ENST00000434704.2	-	3	896	c.671C>T	c.(670-672)cCg>cTg	p.P224L	DLX3_ENST00000512495.2_Missense_Mutation_p.P104L	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCAGGGGCCGGAGTGGAGTG	0.647000													13	33					0	0	0.00185496	0	0
ATG4D	84971	broad.mit.edu	37	19	10659628	10659628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:10659628C>T	ENST00000309469.4	+	6	1057	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	295					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACCCCACAGCCGAGTGGAAG	0.622000													15	19					0	0	0.000422831	0	0
ZNF2	7549	broad.mit.edu	37	2	95847396	95847396	+	Silent	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:95847396C>A	ENST00000398107.2	+	4	1219	c.697C>A	c.(697-699)Cga>Aga	p.R233R	ZNF2_ENST00000295210.6_Silent_p.R237R|ZNF2_ENST00000340539.5_Silent_p.R275R|ZNF2_ENST00000425369.1_Silent_p.R195R|ZNF2_ENST00000453539.2_Silent_p.R288R	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATCCCTTACTCGACACCAGAG	0.458000													5	76					0.00116845	0.00439801	0.00116845	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258459	9258459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:9258459C>T	ENST00000383440.2	+	8	5382	c.5125C>T	c.(5125-5127)Cct>Tct	p.P1709S	ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1732S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1709S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1732						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCAAATCCCTCAAAGAAT	0.343000													8	18					0	0	0.000978159	0	0
ZNF621	285268	broad.mit.edu	37	3	40574105	40574105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:40574105C>T	ENST00000339296.5	+	5	1296	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Nonsense_Mutation_p.Q171*|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Nonsense_Mutation_p.Q282*	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TATTGTCCATCAGAGAATTCA	0.433000													14	32					0	0	0.00185496	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197404165G>A	ENST00000367397.1	+	5	2173	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1058	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000													13	42					0	0	0.000422831	0	0
UBE2S	27338	broad.mit.edu	37	19	55913071	55913071	+	Silent	SNP	G	G	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55913071G>T	ENST00000264552.9	-	4	589	c.402C>A	c.(400-402)ggC>ggA	p.G134G	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	134					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AGAGCAGGCGGCCCGCCTCCT	0.672000													14	28					6.33239e-15	2.41814e-14	0.00152264	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038654	62038654	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62038654C>T	ENST00000354587.3	-	17	2162	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	KCNQ2_ENST00000370224.1_Silent_p.E662E|KCNQ2_ENST00000359689.1_Silent_p.E654E|KCNQ2_ENST00000344462.3_Silent_p.E650E|KCNQ2_ENST00000360480.3_Silent_p.E626E|KCNQ2_ENST00000359125.2_Silent_p.E654E|KCNQ2_ENST00000370226.1_Silent_p.E624E|KCNQ2_ENST00000430658.1_Silent_p.E623E|KCNQ2_ENST00000357249.2_Silent_p.E636E			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	654					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGGCCTCGGTCTCTGTCGGGG	0.627000													18	72					0	0	0.00152264	0	0
SALL3	27164	broad.mit.edu	37	18	76754491	76754491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:76754491C>T	ENST00000536229.3	+	1	2810	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S	SALL3_ENST00000575389.2_Missense_Mutation_p.P834S|SALL3_ENST00000537592.2_Missense_Mutation_p.P834S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCTCCCCGCCCTCGGTCAT	0.652000													16	20					0	0	0.000566183	0	0
SON	6651	broad.mit.edu	37	21	34925573	34925573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:34925573C>T	ENST00000356577.4	+	3	4511	c.4036C>T	c.(4036-4038)Ccg>Tcg	p.P1346S	SON_ENST00000381679.4_Missense_Mutation_p.P1346S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1346S|SON_ENST00000290239.6_Missense_Mutation_p.P1346S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1346					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATTCTGGAGCCGCCAGCCAT	0.547000													24	20					0	0	0.000878237	0	0
LIMK1	3984	broad.mit.edu	37	7	73513455	73513455	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:73513455G>A	ENST00000418310.1	+	5	687	c.585G>A	c.(583-585)ctG>ctA	p.L195L	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Silent_p.L131L|LIMK1_ENST00000336180.2_Silent_p.L165L			P53667	LIMK1_HUMAN	LIM domain kinase 1	165	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCGTCACCCTGGTGTCCATCC	0.647000													41	60					0	0	0.00285205	0	0
ATP12A	479	broad.mit.edu	37	13	25262538	25262538	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:25262538A>T	ENST00000218548.6	+	4	643	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	ATP12A_ENST00000381946.3_Missense_Mutation_p.I104F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	104					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACGCCTGAGATCGTCAAGTT	0.592000													105	149					0	0	0.000781405	0	0
KMT2A	4297	broad.mit.edu	37	11	118374107	118374107	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118374107C>T	ENST00000534358.1	+	27	7523	c.7500C>T	c.(7498-7500)gtC>gtT	p.V2500V	KMT2A_ENST00000354520.4_Silent_p.V2459V|KMT2A_ENST00000389506.5_Silent_p.V2497V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGCCAGGAGTCCCCAAAGCTC	0.448000													19	34					0	0	0.00152264	0	0
SLC25A19	60386	broad.mit.edu	37	17	73279576	73279576	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73279576G>A	ENST00000402418.3	-	3	1296	c.387C>T	c.(385-387)gcC>gcT	p.A129A	SLC25A19_ENST00000416858.2_Silent_p.A129A|SLC25A19_ENST00000580994.1_Silent_p.A129A|SLC25A19_ENST00000442286.2_Silent_p.A129A|SLC25A19_ENST00000320362.3_Silent_p.A129A|SLC25A19_ENST00000375261.4_Intron			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	129						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGCCATACAGGCAGCCAGGC	0.592000													16	13					0	0	0.00074312	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	76					0	0	0.00198382	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33592285	33592285	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33592285G>A	ENST00000252015.2	-	17	2114	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	TRPC4AP_ENST00000451813.1_Silent_p.I667I|TRPC4AP_ENST00000432634.2_Silent_p.I636I|TRPC4AP_ENST00000539834.1_Silent_p.I277I			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	675					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCACGTGGATGATGTTGATGA	0.592000													7	39					0	0	0.000442599	0	0
LINGO2	158038	broad.mit.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral to membrane		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547000													8	14					0	0	0.000157383	0	0
COL17A1	1308	broad.mit.edu	37	10	105797396	105797396	+	Missense_Mutation	SNP	C	C	T	rs147631156	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:105797396C>T	ENST00000353479.5	-	46	3496	c.3206G>A	c.(3205-3207)cGg>cAg	p.R1069Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1024Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1069	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCTTACTCCGTAAGTAGCT	0.602000													27	44					0	0	0.001512	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432252	140432252	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140432252G>A	ENST00000306549.3	+	1	1274	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACATTTGGGAATTCTTACT	0.473000													24	60					0	0	0.000586117	0	0
POLR1A	25885	broad.mit.edu	37	2	86272789	86272789	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:86272789C>A	ENST00000263857.6	-	20	3215	c.2837G>T	c.(2836-2838)aGg>aTg	p.R946M	POLR1A_ENST00000409681.1_Missense_Mutation_p.R946M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	946					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCCACCAGCCCTGGGGGTGAA	0.527000													48	50					2.12129e-23	8.1343e-23	0.000781405	1	0
OR52D1	390066	broad.mit.edu	37	11	5510206	5510206	+	Silent	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5510206C>T	ENST00000322641.5	+	1	292	c.270C>T	c.(268-270)ctC>ctT	p.L90L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTGTGGCTCCATGCTGGTG	0.502000													13	12					0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	137872713	137872713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:137872713G>A	ENST00000409968.1	+	5	1397	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E376K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E266K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E407K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAACTTCTGAATGGAAAGA	0.468000													13	23					0	0	0.000308642	0	0
ABCC8	6833	broad.mit.edu	37	11	17430031	17430031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:17430031C>T	ENST00000302539.4	-	23	2856	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E910K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	910	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.E910*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGTACCCTCCCTCTGGATG	0.547000													116	142					0	0	0.000781405	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412962	45412962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:45412962C>T	ENST00000558996.1	-	4	301	c.247G>A	c.(247-249)Gag>Aag	p.E83K	DUOXA1_ENST00000560572.1_Missense_Mutation_p.E128K|DUOXA1_ENST00000267803.4_Missense_Mutation_p.E128K|DUOXA1_ENST00000558422.1_Missense_Mutation_p.E83K|DUOXA1_ENST00000430224.2_Missense_Mutation_p.E83K|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E128K	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	128					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GTGAACTCCTCGTTGTAATTG	0.572000													57	89					0	0	0.000781405	0	0
GRIK5	2901	broad.mit.edu	37	19	42525574	42525574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:42525574G>A	ENST00000262895.3	-	14	1749	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	GRIK5_ENST00000301218.4_Missense_Mutation_p.H584Y|GRIK5_ENST00000593562.1_Missense_Mutation_p.H584Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	584						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCAGGATGTGGGGGCGTGCC	0.657000													9	13					0	0	0.000442599	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:17091331G>A	ENST00000443236.1	-	14	1733	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000													24	34					0	0	0.00106085	0	0
NLGN3	54413	broad.mit.edu	37	X	70389876	70389876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:70389876C>T	ENST00000374051.3	+	7	2738	c.2416C>T	c.(2416-2418)Ccc>Tcc	p.P806S	NLGN3_ENST00000358741.3_Missense_Mutation_p.P826S|NLGN3_ENST00000536169.1_Missense_Mutation_p.P786S|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	826					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACATTGCACCCCTATAACAC	0.592000													6	1					0	0	0.00116845	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:75044176G>A	ENST00000343932.4	+	4	1086	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000													25	44					0	0	0.000720815	0	0
STMN2	11075	broad.mit.edu	37	8	80567234	80567234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:80567234G>A	ENST00000220876.7	+	4	799	c.417G>A	c.(415-417)atG>atA	p.M139I	STMN2_ENST00000518111.1_Missense_Mutation_p.M139I|STMN2_ENST00000518491.1_Missense_Mutation_p.M128I	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	139					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TCCTGAAAATGGAACAAATTA	0.453000													17	6					0	0	0.000422831	0	0
SYT10	341359	broad.mit.edu	37	12	33532820	33532820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33532820C>T	ENST00000228567.3	-	6	1743	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SYT10_ENST00000535526.1_Missense_Mutation_p.E302K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	483						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCAGCATTTCATTCCAGTGG	0.463000													19	45					0	0	0.000958276	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726646	3726646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:3726646G>A	ENST00000254963.2	+	7	788	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49T	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	215							ATP binding	p.A215S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GAAACAGCCAGCCAAGCAGTT	0.642000													20	28					0	0	0.00278032	0	0
HKDC1	80201	broad.mit.edu	37	10	70998811	70998811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:70998811C>T	ENST00000354624.5	+	5	642	c.509C>T	c.(508-510)tCg>tTg	p.S170L	HKDC1_ENST00000395086.2_Missense_Mutation_p.S170L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	170	Glucose-binding (Potential).				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCTACTTTCGTGGACAAAA	0.502000													15	35					0	0	0.000422831	0	0
THAP3	90326	broad.mit.edu	37	1	6693007	6693008	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:6693007_6693008delAG	ENST00000054650.4	+	6	748_749	c.590_591delAG	c.(589-591)afs	p.K197fs	THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Frame_Shift_Del_p.K196fs	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	197							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTCACTCTGAAGGAAAATGAAA	0.554													16	32	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1947053	1947053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:1947053delT	ENST00000399161.2	-	9	953	c.206delA	c.(205-207)cgfs	p.Q69fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.Q69fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	69					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCAGGTTCCTGGGGCTGTTT	0.433													2	4	---	---	---	---					
REG1P	5969	broad.mit.edu	37	2	79365207	79365208	+	RNA	INS	-	-	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:79365207_79365208insG	ENST00000444841.1	-	0	56																											CAATCTCTATAGGAAAACACAG	0.470													4	4	---	---	---	---					
ARHGAP15	55843	broad.mit.edu	37	2	144461039	144461040	+	Frame_Shift_Ins	INS	-	-	ACTC			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:144461039_144461040insACTC	ENST00000295095.6	+	13	1357_1358	c.1190_1191insACTC	c.(1189-1191)actfs	p.T397fs	RP11-434H14.1_ENST00000552220.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	397	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTTGTACAAAAACTCCCTCCGC	0.342													10	20	---	---	---	---					
MITF	4286	broad.mit.edu	37	3	69986995	69986997	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:69986995_69986997delCCA	ENST00000352241.4	+	3	540_542	c.377_379delCCA	c.(376-381)ccc>c	p.PT126del	MITF_ENST00000472437.1_In_Frame_Del_p.PT74del|MITF_ENST00000448226.2_In_Frame_Del_p.PT126del|MITF_ENST00000394351.3_In_Frame_Del_p.PT19del|MITF_ENST00000394355.2_In_Frame_Del_p.PT101del|MITF_ENST00000531774.1_In_Frame_Del_p.PT19del|MITF_ENST00000314557.6_In_Frame_Del_p.PT19del|MITF_ENST00000314589.5_In_Frame_Del_p.PT110del|MITF_ENST00000328528.6_In_Frame_Del_p.PT125del|MITF_ENST00000394348.1_3'UTR	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	126					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTCGAAAACCCCACCAAGTACCA	0.488			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						11	32	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													3	3	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149476670	149476671	+	RNA	INS	-	-	A	rs66769486		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:149476670_149476671insA	ENST00000378016.2	+	0	1120_1121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGACAGCCCCTGGGGCTCATA	0.619													3	4	---	---	---	---					
CNTRL	11064	broad.mit.edu	37	9	123860722	123860722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123860722delA	ENST00000373855.1	+	7	940	c.680delA	c.(679-681)gafs	p.E227fs	CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E227fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E227fs			Q7Z7A1	CNTRL_HUMAN	centriolin	227					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCCTAGTTGAAAATCCAGTT	0.368													22	72	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65269783	65269784	+	RNA	INS	-	-	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:65269783_65269784insT	ENST00000534336.1	+	0	4551_4552					NR_002819.2																						TAATTTAAAACTACTATAGAAA	0.312													13	28	---	---	---	---					
ZC3H4	23211	broad.mit.edu	37	19	47589699	47589713	+	In_Frame_Del	DEL	CCTCTGCCCCTGCCT	CCTCTGCCCCTGCCT	-	rs653615		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:47589699_47589713delCCTCTGCCCCTGCCT	ENST00000253048.5	-	6	835_849	c.798_812delAGGCAGGGGCAGAGG	c.(796-813)cgc>cg	p.RGRGRG266del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	266	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCCATAGAGCCTCTGCCCCTGCCTCGGCTGCCCC	0.665													21	41	---	---	---	---