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
C10orf90	118611	broad.mit.edu	37	10	128114580	128114580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:128114580G>A	ENST00000284694.7	-	8	2161	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	C10orf90_ENST00000544758.1_Missense_Mutation_p.R778C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R634C|C10orf90_ENST00000480379.1_Missense_Mutation_p.R85C|C10orf90_ENST00000454341.1_Missense_Mutation_p.R584C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	681										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCGGCACGGAGTCTGTTA	0.413000													39	68					0	0	0.006999	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:209933708G>A	ENST00000367024.1	+	3	840	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367025.3_Silent_p.R108R|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000													12	7					0	0	0.000978	0	0
KCNB2	9312	broad.mit.edu	37	8	73848398	73848398	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:73848398G>A	ENST00000523207.1	+	3	1396	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	270					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAATGTCATTGATTTGCTGGC	0.468000													32	53					0	0	0.002836	0	0
PCDH20	64881	broad.mit.edu	37	13	61986097	61986097	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:61986097A>G	ENST00000409186.1	-	5	4240	c.2135T>C	c.(2134-2136)gTt>gCt	p.V712A	PCDH20_ENST00000409204.4_Missense_Mutation_p.V712A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	685	Cadherin 5.				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)		AACAGCTTCAACCCACAAAGT	0.443000													44	73					0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89091324	89091324	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:89091324T>A	ENST00000554922.1	-	36	5136	c.4888A>T	c.(4888-4890)Aag>Tag	p.K1630*	EML5_ENST00000380664.5_Nonsense_Mutation_p.K1622*|EML5_ENST00000352093.5_Nonsense_Mutation_p.K1584*|EML5_ENST00000553320.1_5'UTR	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1622						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCTTTCCTTTCCCCCAGTC	0.453000													19	21					0	0	0.001523	0	0
EDC4	23644	broad.mit.edu	37	16	67915197	67915197	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:67915197C>T	ENST00000358933.5	+	20	2905	c.2666C>T	c.(2665-2667)gCc>gTc	p.A889V		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	889					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCAGCCTTGCCTCTGCTTCA	0.597000													42	71					0	0	0.008740	0	0
USH2A	7399	broad.mit.edu	37	1	215844496	215844496	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:215844496G>A	ENST00000366943.2	-	64	14337	c.13951C>T	c.(13951-13953)Cca>Tca	p.P4651S	USH2A_ENST00000307340.3_Missense_Mutation_p.P4651S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4651	Fibronectin type-III 32.				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)		GAAACAGTTGGCTGGAATCCT	0.453000										HNSCC(13;0.011)			25	62					0	0	0.005443	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748931	10748931	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:10748931C>T	ENST00000586078.1	+	20	1978	c.1869C>T	c.(1867-1869)caC>caT	p.H623H	SLC44A2_ENST00000407327.4_Silent_p.H621H|SLC44A2_ENST00000335757.5_Silent_p.H623H|SLC44A2_ENST00000588214.1_3'UTR	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	623					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTCACCCACCGTATCAGGA	0.498000													24	53					0	0	0.004656	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529829	5529829	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5529829C>T	ENST00000311659.4	-	2	1107	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	320										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCCCATCCTGCCTTCCTT	0.512000													27	41					0	0	0.003954	0	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:94113452G>A	ENST00000243673.2	-	4	1306	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	GPR83_ENST00000539203.2_Missense_Mutation_p.P337S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000													35	71					0	0	0.005524	0	0
TNKS	8658	broad.mit.edu	37	8	9437707	9437707	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:9437707A>T	ENST00000310430.6	+	2	738	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	TNKS_ENST00000520408.1_Missense_Mutation_p.M238L|TNKS_ENST00000518281.1_Start_Codon_SNP_p.M1L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	238					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTTACTACAGATGGGTGCTAA	0.388000													64	82					0	0	0.003610	0	0
TCF4	6925	broad.mit.edu	37	18	52927224	52927224	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:52927224G>A	ENST00000354452.3	-	13	1636	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	TCF4_ENST00000564403.2_Missense_Mutation_p.S348L|TCF4_ENST00000570177.2_Missense_Mutation_p.S212L|TCF4_ENST00000568740.1_Missense_Mutation_p.S317L|TCF4_ENST00000561992.1_Missense_Mutation_p.S212L|TCF4_ENST00000561831.3_Missense_Mutation_p.S182L|TCF4_ENST00000356073.4_Missense_Mutation_p.S342L|TCF4_ENST00000457482.3_Missense_Mutation_p.S182L|TCF4_ENST00000566286.1_Missense_Mutation_p.S340L|TCF4_ENST00000537856.3_Missense_Mutation_p.S212L|TCF4_ENST00000570287.2_Missense_Mutation_p.S182L|TCF4_ENST00000568673.1_Missense_Mutation_p.S318L|TCF4_ENST00000565018.2_Missense_Mutation_p.S342L|TCF4_ENST00000540999.1_Missense_Mutation_p.S318L|TCF4_ENST00000537578.1_Missense_Mutation_p.S318L|TCF4_ENST00000564228.1_Missense_Mutation_p.S271L|TCF4_ENST00000564999.1_Missense_Mutation_p.S342L|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000543082.1_Missense_Mutation_p.S300L|TCF4_ENST00000398339.1_Missense_Mutation_p.S444L|TCF4_ENST00000567880.1_Missense_Mutation_p.S282L|TCF4_ENST00000544241.2_Missense_Mutation_p.S271L|TCF4_ENST00000566279.1_Missense_Mutation_p.S282L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	342					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)		AGGGTTTGATGAAAAGCTGTT	0.343000													19	49					0	0	0.003330	0	0
DMP1	1758	broad.mit.edu	37	4	88584097	88584097	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:88584097G>A	ENST00000339673.6	+	6	1266	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.S373S	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	389					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGACAGCTCGCACACACTCT	0.547000													58	90					0	0	0.003610	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381742	6381742	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:6381742C>T	ENST00000394456.5	-	7	1266	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	GTF2F1_ENST00000429701.2_Missense_Mutation_p.G183S	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	268					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						ACCTCTTGGCCCTCGAAGTCC	0.632000													22	32					0	0	0.001882	0	0
OBSCN	84033	broad.mit.edu	37	1	228447368	228447368	+	Silent	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:228447368T>A	ENST00000570156.2	+	17	5102	c.5028T>A	c.(5026-5028)gcT>gcA	p.A1676A	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.A148A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	661	Ig-like 17.				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)				ATGTGGAGGCTGCAGGCTGTA	0.632000													28	47					0	0	0.007291	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:24488226C>T	ENST00000264463.4	-	12	2420	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(1)|p.R638Q(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)			12	23					0	0	0.002450	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:139094904C>T	ENST00000332797.6	+	1	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000													92	108					0	0	0.003610	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361033	48361033	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:48361033G>A	ENST00000429772.2	+	7	758	c.645G>A	c.(643-645)gtG>gtA	p.V215V	TMEM106C_ENST00000550552.1_Silent_p.V196V|TMEM106C_ENST00000552561.1_Silent_p.V215V|TMEM106C_ENST00000449758.2_Silent_p.V196V|TMEM106C_ENST00000256686.6_Silent_p.V196V|TMEM106C_ENST00000552546.1_Silent_p.V144V|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ACAACATAGTGATCTTCATGC	0.498000													82	142					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81833757	81833757	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:81833757A>C	ENST00000550584.2	-	6	934	c.639T>G	c.(637-639)aaT>aaG	p.N213K	PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.N213K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.N195K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.N195K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.N213K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.N213K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.N60K|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.N139K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	139										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTACCTCCTGATTAGCAGCAG	0.408000													14	26					0	0	0.002450	0	0
ZNF540	163255	broad.mit.edu	37	19	38104026	38104026	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38104026C>T	ENST00000592533.1	+	5	2177	c.1845C>T	c.(1843-1845)gcC>gcT	p.A615A	ZNF540_ENST00000589117.1_Silent_p.A583A|ZNF540_ENST00000316433.4_Silent_p.A615A|ZNF540_ENST00000343599.5_Silent_p.A615A	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAGGCCTTTAGACTTA	0.393000													10	18					0	0	0.008291	0	0
ABCA8	10351	broad.mit.edu	37	17	66933150	66933150	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:66933150A>T	ENST00000269080.2	-	4	545	c.408T>A	c.(406-408)caT>caA	p.H136Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.H136Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.H136Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	136						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)					AGAACTTCAAATGATATGAGT	0.363000													14	21					0	0	0.002450	0	0
FASN	2194	broad.mit.edu	37	17	80043386	80043386	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:80043386G>A	ENST00000306749.2	-	23	4312	c.4094C>T	c.(4093-4095)cCg>cTg	p.P1365L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1365					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)	GCCATACTGCGGCTCAGTGGA	0.716000													5	7					0	0	0.000602	0	0
FAM91A1	157769	broad.mit.edu	37	8	124790913	124790913	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:124790913G>A	ENST00000334705.7	+	6	696	c.450G>A	c.(448-450)agG>agA	p.R150R	FAM91A1_ENST00000521166.1_Silent_p.R150R	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	150										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTTCAGAAGGAAAACAGCCC	0.393000													10	32					0	0	0.000978	0	0
WDR52	55779	broad.mit.edu	37	3	113145080	113145080	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:113145080C>T	ENST00000393845.2	-	4	364	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	WDR52_ENST00000295868.2_Missense_Mutation_p.E100K|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	100										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCTTAACTTCCTCCTCTGCT	0.408000													32	33					0	0	0.008361	0	0
OBSCN	84033	broad.mit.edu	37	1	228548176	228548176	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:228548176G>A	ENST00000284548.11	+	81	19657	c.19583G>A	c.(19582-19584)gGc>gAc	p.G6528D	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3647D|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7549	Protein kinase 1.				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)				GGCCCTCTCGGCCTCTTTAGG	0.701000													5	22					0	0	0.001168	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716849	13716849	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:13716849C>T	ENST00000376098.4	+	2	362	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	112										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGAATTTCTGGACTATAT	0.542000													64	89					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41101144	41101144	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:41101144G>A	ENST00000373198.3	-	8	1447	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PTPRT_ENST00000373193.3_Silent_p.T404T|PTPRT_ENST00000373190.1_Silent_p.T404T|PTPRT_ENST00000356100.2_Silent_p.T404T|PTPRT_ENST00000373187.1_Silent_p.T404T|PTPRT_ENST00000373201.1_Silent_p.T404T|PTPRT_ENST00000373184.1_Silent_p.T404T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	404	Fibronectin type-III 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)				CCCACTGCAGGGTCAGCTGCC	0.572000													10	32					0	0	0.008291	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568724	103568724	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:103568724G>A	ENST00000380069.3	+	2	740	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	222										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GAGCGCGGAGGAGGAAGCCCA	0.751000													3	4					0	0	0.004672	0	0
OR8B8	26493	broad.mit.edu	37	11	124310178	124310178	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:124310178C>T	ENST00000328064.2	-	1	876	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		TGCCCTGGTTCATAGCTAAAA	0.453000													21	27					0	0	0.008871	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956401	50956401	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:50956401G>A	ENST00000395701.3	+	6	514		c.e6-1		NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCTCCATGCAGGAGGTCCTCA	0.602000													25	46					0	0	0.003954	0	0
TUBB6	84617	broad.mit.edu	37	18	12325112	12325112	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:12325112G>A	ENST00000317702.5	+	4	558	c.324G>A	c.(322-324)gaG>gaA	p.E108E	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000592683.1_3'UTR|TUBB6_ENST00000591208.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	108					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTACACGGAGGGCGCGGAGC	0.652000													41	37					0	0	0.002522	0	0
SOS2	6655	broad.mit.edu	37	14	50587031	50587031	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:50587031G>A	ENST00000216373.5	-	22	3725	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	SOS2_ENST00000543680.1_Missense_Mutation_p.P1118S	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1151					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTTTTCGAGGAGGAAGAGGA	0.378000													13	21					0	0	0.002450	0	0
ZNF195	7748	broad.mit.edu	37	11	3380423	3380423	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:3380423G>A	ENST00000354599.6	-	4	1703	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.P605P|ZNF195_ENST00000343338.7_Silent_p.P537P|ZNF195_ENST00000526601.1_Silent_p.P586P|ZNF195_ENST00000429541.2_Silent_p.P537P|ZNF195_ENST00000005082.9_Silent_p.P582P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACACTTGTAGGGTTTCTCTC	0.363000													28	39					0	0	0.007291	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407566	38407566	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:38407566G>A	ENST00000351773.3	+	8	2317	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	ZNF37A_ENST00000361085.4_Missense_Mutation_p.G496E	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAACCCTATGGATGTAATCAA	0.403000													7	14					0	0	0.003080	0	0
ATF6	22926	broad.mit.edu	37	1	161736198	161736198	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:161736198C>T	ENST00000367942.3	+	1	115	c.48C>T	c.(46-48)agC>agT	p.S16S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	16	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CACCTTTTAGCCCGGGACTCT	0.567000													19	53					0	0	0.008871	0	0
OR6T1	219874	broad.mit.edu	37	11	123814355	123814355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123814355C>T	ENST00000321252.2	-	1	225	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	64			R -> W (in dbSNP:rs6590021).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		GGAGAAATTCCGCAGGAAGAA	0.488000													29	49					0	0	0.006320	0	0
LCA5L	150082	broad.mit.edu	37	21	40795010	40795010	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:40795010C>T	ENST00000358268.2	-	5	1257	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LCA5L_ENST00000485895.2_Silent_p.Q243Q|LCA5L_ENST00000380671.2_Silent_p.Q243Q|LCA5L_ENST00000288350.3_Silent_p.Q243Q			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	243										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCTGCAGTGCCTGCAAGATAT	0.368000													30	72					0	0	0.002836	0	0
TENM3	55714	broad.mit.edu	37	4	183714222	183714222	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:183714222G>A	ENST00000511685.1	+	26	6520	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N	TENM3_ENST00000406950.2_Missense_Mutation_p.D2133N					teneurin transmembrane protein 3																		TTATGAATATGATGTTGATGG	0.398000													21	54					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179590692	179590692	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:179590692C>T	ENST00000589042.1	-	70	20581	c.20357G>A	c.(20356-20358)gGa>gAa	p.G6786E	TTN_ENST00000342992.6_Missense_Mutation_p.G5542E|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6469E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6469	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5542V(1)		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)			CGGTGGTGTTCCCGAAAGTTC	0.413000													12	14					0	0	0.000978	0	0
SORL1	6653	broad.mit.edu	37	11	121384924	121384924	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:121384924C>T	ENST00000260197.7	+	8	1234	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	369					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)		CAGTAACAACCGCACCAATTT	0.483000													12	39					0	0	0.002450	0	0
CMAS	55907	broad.mit.edu	37	12	22215349	22215349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:22215349G>A	ENST00000229329.2	+	7	1225	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	365					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GCCTGTGCTGGAAAGAAGTGG	0.358000													10	19					0	0	0.008291	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384831	48384831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:48384831G>A	ENST00000264313.6	+	5	1527	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	SLAIN2_ENST00000512093.1_Missense_Mutation_p.G177E	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	370						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGCTCGGGGAATAGAATAT	0.493000													8	27					0	0	0.003080	0	0
OR10S1	219873	broad.mit.edu	37	11	123848357	123848357	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123848357C>T	ENST00000531945.1	-	1	131	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGGGGTTCTCCGTTGTCATGG	0.478000													31	51					0	0	0.002445	0	0
SBNO1	55206	broad.mit.edu	37	12	123821032	123821032	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123821032G>A	ENST00000420886.2	-	5	657	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SBNO1_ENST00000267176.4_Missense_Mutation_p.P219S|SBNO1_ENST00000602398.1_Missense_Mutation_p.P220S|SBNO1_ENST00000602750.1_Missense_Mutation_p.P219S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	220							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tttACAACAGGAACCTTCTGC	0.418000													9	13					0	0	0.004482	0	0
MRPS25	64432	broad.mit.edu	37	3	15106679	15106679	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:15106679G>A	ENST00000253686.2	-	1	163	c.23C>T	c.(22-24)cCc>cTc	p.P8L	MRPS25_ENST00000444840.2_Missense_Mutation_p.P8L|MRPS25_ENST00000449354.2_Missense_Mutation_p.P8L	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	8					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GCGGCGGATGGGGAAGCGGCC	0.652000													5	9					0	0	0.001168	0	0
OR51L1	119682	broad.mit.edu	37	11	5020323	5020323	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5020323T>A	ENST00000321543.1	+	1	111	c.111T>A	c.(109-111)taT>taA	p.Y37*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	37					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)		GTCTTGCATATTTGGTAGCAT	0.423000													37	68					0	0	0.004289	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931161	94931161	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:94931161G>A	ENST00000337425.5	-	4	1061	c.987C>T	c.(985-987)tcC>tcT	p.S329S	SERPINA9_ENST00000380365.3_Silent_p.S311S|SERPINA9_ENST00000546329.1_Silent_p.S293S|SERPINA9_ENST00000448305.2_Silent_p.S231S|SERPINA9_ENST00000298845.7_Silent_p.S229S|SERPINA9_ENST00000424550.2_Silent_p.S180S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	311					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGCAGAAATGGAAAATCTGG	0.458000													19	28					0	0	0.001523	0	0
METTL20	254013	broad.mit.edu	37	12	31814890	31814890	+	Translation_Start_Site	SNP	G	G	A	rs143259576		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:31814890G>A	ENST00000357721.3	+	2	218	c.3G>A	c.(1-3)atG>atA	p.M1I	METTL20_ENST00000395763.3_Start_Codon_SNP_p.M1I|METTL20_ENST00000538391.1_Start_Codon_SNP_p.M1I|METTL20_ENST00000538463.1_Start_Codon_SNP_p.M1I|METTL20_ENST00000412352.2_Start_Codon_SNP_p.M1I	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	1						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						AAGGACTGATGGCTTTGAGTC	0.488000													47	115					0	0	0.003610	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111038	7111038	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:7111038G>A	ENST00000306904.5	+	1	874	c.687G>A	c.(685-687)cgG>cgA	p.R229R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGAACCCCGGGGTTTTGCCC	0.697000													9	15					0	0	0.004482	0	0
ZNF217	7764	broad.mit.edu	37	20	52192399	52192399	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:52192399G>A	ENST00000371471.2	-	4	3329	c.2904C>T	c.(2902-2904)ccC>ccT	p.P968P	ZNF217_ENST00000302342.3_Silent_p.P968P			O75362	ZN217_HUMAN	zinc finger protein 217	968					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACCTTGGTTTGGGAGGCAGCG	0.537000													22	46					0	0	0.001882	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982478	7982478	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:7982478C>T	ENST00000543909.1	-	10	1225	c.466G>A	c.(466-468)Gga>Aga	p.G156R	SLC2A14_ENST00000340749.5_Missense_Mutation_p.G133R|SLC2A14_ENST00000396589.2_Missense_Mutation_p.G156R|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.G171R|SLC2A14_ENST00000542546.1_Missense_Mutation_p.G47R|SLC2A14_ENST00000535295.1_Missense_Mutation_p.G47R|SLC2A14_ENST00000431042.2_Missense_Mutation_p.G133R			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	156					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGCAGAGTCCGCAGAAGAGG	0.537000													12	32					0	0	0.001855	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7886236	7886236	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7886236G>A	ENST00000539054.1	-	8	787	c.788C>T	c.(787-789)aCc>aTc	p.T263I	BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.T227I|TXNDC5_ENST00000473453.1_Missense_Mutation_p.T227I|TXNDC5_ENST00000379757.4_Missense_Mutation_p.T335I																							TTCTGCAATGGTGTCATCGAA	0.418000													16	21					0	0	0.004990	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	40					0	0	0.001984	0	0
KCNA1	3736	broad.mit.edu	37	12	5021216	5021216	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:5021216G>A	ENST00000382545.3	+	2	1779	c.672G>A	c.(670-672)gtG>gtA	p.V224V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	224					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTTCATCGTGGAAACGCTGT	0.512000													19	33					0	0	0.006122	0	0
NPTXR	23467	broad.mit.edu	37	22	39219170	39219170	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:39219170C>T	ENST00000333039.2	-	4	1319	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	399	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTGCAGCTCCCCGTCCTGGTA	0.622000													24	55					0	0	0.003330	0	0
CLCN1	1180	broad.mit.edu	37	7	143016940	143016940	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:143016940G>A	ENST00000343257.2	+	2	360	c.273G>A	c.(271-273)aaG>aaA	p.K91K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	91					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)					TGGACAGCAAGGATGAGGATC	0.458000													38	119					0	0	0.002222	0	0
VPS13B	157680	broad.mit.edu	37	8	100712097	100712097	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:100712097C>G	ENST00000358544.2	+	36	6577	c.6466C>G	c.(6466-6468)Ctg>Gtg	p.L2156V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2131V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2156					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)			CAAACCATGCCTGTTAGCATC	0.438000													10	37					0	0	0.006214	0	0
KIF1B	23095	broad.mit.edu	37	1	10394662	10394662	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:10394662G>A	ENST00000377086.1	+	28	3211	c.3009G>A	c.(3007-3009)cgG>cgA	p.R1003R	KIF1B_ENST00000263934.6_Silent_p.R957R|KIF1B_ENST00000377081.1_Silent_p.R1003R			O60333	KIF1B_HUMAN	kinesin family member 1B	1003					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)		GTGAAGTGCGGGGATTTCTGC	0.512000													35	49					0	0	0.004878	0	0
RSPH9	221421	broad.mit.edu	37	6	43618155	43618155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:43618155G>A	ENST00000372165.4	+	2	324	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RSPH9_ENST00000372163.4_Missense_Mutation_p.E91K	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	91					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCCACAGAGGAGATGGTGGC	0.537000									Kartagener syndrome				22	41					0	0	0.002299	0	0
FANCA	2175	broad.mit.edu	37	16	89849491	89849491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:89849491G>A	ENST00000389301.3	-	16	1520	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	FANCA_ENST00000568369.1_Missense_Mutation_p.P497L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	497					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGAACCAGGGGTGGGTGGAG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	29					0	0	0.001984	0	0
PCK1	5105	broad.mit.edu	37	20	56137861	56137861	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:56137861C>T	ENST00000319441.4	+	4	680	c.516C>T	c.(514-516)atC>atT	p.I172I	PCK1_ENST00000535860.1_Silent_p.I40I|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	172					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATGCGGATCATGACGCGGA	0.587000													22	28					0	0	0.002299	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954483	10954483	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:10954483G>A	ENST00000240687.2	-	1	743	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	229					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CTCTCACATGGGCTTCTGTGC	0.502000													6	7					0	0	0.001168	0	0
LPA	4018	broad.mit.edu	37	6	161071426	161071426	+	Silent	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:161071426A>G	ENST00000447678.1	-	3	273	c.153T>C	c.(151-153)gcT>gcC	p.A51A	LPA_ENST00000316300.5_Silent_p.A51A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2559	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGATGACCAAGCTTGGCAGG	0.458000													47	82					0	0	0.003610	0	0
VAT1	10493	broad.mit.edu	37	17	41168464	41168464	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:41168464T>C	ENST00000355653.3	-	5	1053	c.958A>G	c.(958-960)Aac>Gac	p.N320D	VAT1_ENST00000420567.3_Missense_Mutation_p.N186D|VAT1_ENST00000587173.1_Missense_Mutation_p.N252D	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	320						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCCCGGTTGGCCTGCAGC	0.637000													13	39					0	0	0.001855	0	0
GRAMD3	65983	broad.mit.edu	37	5	125801182	125801182	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:125801182C>T	ENST00000285689.3	+	2	609	c.148C>T	c.(148-150)Cct>Tct	p.P50S	GRAMD3_ENST00000511134.1_Missense_Mutation_p.P34S|GRAMD3_ENST00000543198.1_Missense_Mutation_p.P50S|GRAMD3_ENST00000544396.1_5'UTR|GRAMD3_ENST00000513040.1_Missense_Mutation_p.P65S|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000542322.1_Silent_p.P43P|GRAMD3_ENST00000502348.1_5'UTR|RP11-517I3.1_ENST00000512779.1_RNA|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000515200.1_Missense_Mutation_p.P50S	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	50										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGCCCAATCCCCTACCCCATC	0.493000													20	48					0	0	0.002299	0	0
COL14A1	7373	broad.mit.edu	37	8	121383403	121383403	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:121383403A>T	ENST00000297848.3	+	48	5594	c.5324A>T	c.(5323-5325)gAt>gTt	p.D1775V	COL14A1_ENST00000247781.3_Missense_Mutation_p.D1680V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1775	Triple-helical region 2 (COL1).				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)			CCCCATCCAGATCAGCCAGAG	0.522000													38	104					0	0	0.003610	0	0
FAM170A	340069	broad.mit.edu	37	5	118970427	118970427	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:118970427G>A	ENST00000515256.1	+	3	1156	c.984G>A	c.(982-984)agG>agA	p.R328R				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAAAGGACAGGAAGTGAGCAA	0.552000													25	39					0	0	0.004656	0	0
MRAP2	112609	broad.mit.edu	37	6	84799149	84799149	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:84799149T>G	ENST00000257776.4	+	4	702	c.567T>G	c.(565-567)atT>atG	p.I189M		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	189					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AACCACCTATTGTTCTGGAAA	0.438000													16	25					0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57327202	57327202	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:57327202C>T	ENST00000326441.9	-	10	2971	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D746N|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D744N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D870N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	870					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)		TGTCGCTTATCATTAAGGTCT	0.433000													15	49					0	0	0.002450	0	0
FSIP2	401024	broad.mit.edu	37	2	186672022	186672022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:186672022G>A	ENST00000343098.5	+	17	18256	c.18256G>A	c.(18256-18258)Gaa>Aaa	p.E6086K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5997K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCCAGCAAAGAATGTCAAAC	0.348000													12	26					0	0	0.001368	0	0
MAT2A	4144	broad.mit.edu	37	2	85770792	85770792	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:85770792G>A	ENST00000306434.3	+	9	1208		c.e9-1			NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha						methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTATATTCCAGGGATCTGGAT	0.398000													14	27					0	0	0.002450	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593000	101593000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:101593000G>A	ENST00000310954.6	-	8	1574	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	430					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAGCTCCAGGAATTAAAACA	0.363000													13	26					0	0	0.001855	0	0
SCN3A	6328	broad.mit.edu	37	2	166032661	166032661	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:166032661G>A	ENST00000360093.3	-	3	735	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	SCN3A_ENST00000409101.3_Missense_Mutation_p.P82S|SCN3A_ENST00000283254.7_Missense_Mutation_p.P82S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	82						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATATAGTAGGGATCCAGGTCC	0.373000													21	36					0	0	0.001882	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228193	142228193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:142228193G>A	ENST00000519067.1	-	4	1696	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	SLC45A4_ENST00000517878.1_Missense_Mutation_p.L516F|SLC45A4_ENST00000024061.3_Missense_Mutation_p.L465F|SLC45A4_ENST00000433583.2_Missense_Mutation_p.L458F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	516					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGTGAGGAGGTGGCAGAGG	0.642000													31	30					0	0	0.003755	0	0
OR5R1	219479	broad.mit.edu	37	11	56184738	56184738	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:56184738T>A	ENST00000312253.1	-	1	970	c.971A>T	c.(970-972)tAt>tTt	p.Y324F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GCTTGTTTAATAAAGTTTTCT	0.294000													4	5					0	0	0.000248	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919908	13919908	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:13919908G>A	ENST00000254323.2	+	5	1075	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.D13N	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	296							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCGAATGCGGGACTCCAACGG	0.721000													18	41					0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10469909	10469909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:10469909C>T	ENST00000382483.3	-	4	1922	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	567					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGCTGGCCTCCTGCTGAGAG	0.652000													59	84					0	0	0.003610	0	0
FASN	2194	broad.mit.edu	37	17	80043387	80043387	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:80043387G>A	ENST00000306749.2	-	23	4311	c.4093C>T	c.(4093-4095)Ccg>Tcg	p.P1365S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1365					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)	CCATACTGCGGCTCAGTGGAG	0.716000													5	7					0	0	0.000602	0	0
BAI3	577	broad.mit.edu	37	6	69772901	69772901	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:69772901G>A	ENST00000370598.1	+	16	3230	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	803					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)				ATTCGTTTCTGGAGATAGAAC	0.363000													5	7					0	0	0.000602	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950644	49950644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:49950644G>A	ENST00000262265.5	-	6	797	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.Q188*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	188					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCAGCTCCTGGATCCGAGGA	0.627000													25	47					0	0	0.004656	0	0
MYH6	4624	broad.mit.edu	37	14	23868084	23868084	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:23868084G>A	ENST00000405093.3	-	15	1814	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	MYH6_ENST00000356287.3_Missense_Mutation_p.H582Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	582	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGGCGTAGTGGATCAGGGAG	0.542000													17	41					0	0	0.007413	0	0
GNA15	2769	broad.mit.edu	37	19	3150270	3150270	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:3150270G>A	ENST00000262958.3	+	3	730	c.472G>A	c.(472-474)Gat>Aat	p.D158N	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	158					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCACCTGCTCGATTCAGCCGT	0.657000													37	70					0	0	0.005524	0	0
COL22A1	169044	broad.mit.edu	37	8	139895406	139895406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:139895406G>A	ENST00000303045.6	-	2	456	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	COL22A1_ENST00000435777.1_Missense_Mutation_p.L4F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	4					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)			TTCCCTCGGAGGCCGGCCATG	0.662000										HNSCC(7;0.00092)			6	5					0	0	0.004482	0	0
WWC2	80014	broad.mit.edu	37	4	184210780	184210780	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:184210780G>A	ENST00000403733.3	+	21	3575	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	WWC2_ENST00000504005.1_Missense_Mutation_p.E808K|WWC2_ENST00000508747.1_Missense_Mutation_p.E254K|WWC2_ENST00000513834.1_Missense_Mutation_p.E1077K|WWC2_ENST00000448232.2_Missense_Mutation_p.E1150K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1126										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAGCAAGCTGAGAAGCAGGT	0.522000													32	39					0	0	0.005524	0	0
SELE	6401	broad.mit.edu	37	1	169697314	169697314	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:169697314G>A	ENST00000333360.7	-	8	1303	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	SELE_ENST00000367782.4_Silent_p.F388F|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Silent_p.F388F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367774.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	388	Sushi 4.				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)					ACCCATAACGGAAACTGCCAG	0.517000													25	44					0	0	0.003954	0	0
PLCE1	51196	broad.mit.edu	37	10	95791308	95791308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:95791308C>T	ENST00000260766.3	+	2	1139	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.Q169*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	169					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)				TTTAGGAAATCAGTCAGTGAT	0.428000													27	31					0	0	0.006320	0	0
MAST4	375449	broad.mit.edu	37	5	66462170	66462170	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:66462170A>C	ENST00000404260.3	+	29	7480	c.7172A>C	c.(7171-7173)gAg>gCg	p.E2391A	MAST4_ENST00000405643.1_Missense_Mutation_p.E2209A|MAST4_ENST00000403666.1_Missense_Mutation_p.E2199A|MAST4_ENST00000403625.2_Missense_Mutation_p.E2388A|MAST4_ENST00000261569.7_Missense_Mutation_p.E2194A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2391						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACAAGCTCGAGGCCGGCCTT	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					0	0	0.001168	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204418340	204418340	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:204418340G>A	ENST00000367187.3	-	15	2875	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	PIK3C2B_ENST00000424712.2_Silent_p.F773F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	773					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)			CTGGCTGGTGGAAATTAGGTG	0.547000													8	17					0	0	0.004482	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011519	160011519	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:160011519G>A	ENST00000368089.3	-	2	1030	c.804C>T	c.(802-804)ctC>ctT	p.L268L	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	268						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCGAAGAGGGAGATCTTTCA	0.527000													31	55					0	0	0.001786	0	0
MORC3	23515	broad.mit.edu	37	21	37741392	37741392	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:37741392G>A	ENST00000400485.1	+	15	1802	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	576					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TGATGATGAAGATGTCATCAT	0.383000													27	45					0	0	0.005443	0	0
RANBP17	64901	broad.mit.edu	37	5	170345765	170345765	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:170345765C>T	ENST00000523189.1	+	10	1167	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	335					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTTTGGCTCGTTTAAAGAC	0.338000			T	TRD@	ALL								12	16					0	0	0.000978	0	0
NXPE1	120400	broad.mit.edu	37	11	114393070	114393070	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114393070C>T	ENST00000536271.1	-	4	1655	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	NXPE1_ENST00000424269.1_Missense_Mutation_p.E422K|NXPE1_ENST00000251921.2_Missense_Mutation_p.E280K					neurexophilin and PC-esterase domain family, member 1																		CGGTCAATTTCCCGAGGGATA	0.438000													29	50					0	0	0.003271	0	0
RILPL2	196383	broad.mit.edu	37	12	123900458	123900458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123900458G>A	ENST00000280571.8	-	4	912	c.616C>T	c.(616-618)Cga>Tga	p.R206*		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	206						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTCCCCGATCGAAAAAAGAAC	0.498000													102	156					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9064386	9064386	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9064386G>A	ENST00000397910.4	-	3	23263	c.23060C>T	c.(23059-23061)cCa>cTa	p.P7687L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7689	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						CGGGGAGGATGGAGGGCTGGT	0.552000													15	34					0	0	0.004990	0	0
KMT2E	55904	broad.mit.edu	37	7	104717435	104717435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:104717435C>T	ENST00000334877.4	+	10	1328	c.794C>T	c.(793-795)tCa>tTa	p.S265L	KMT2E_ENST00000311117.3_Missense_Mutation_p.S265L|KMT2E_ENST00000476671.1_Missense_Mutation_p.S265L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S265L|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ATTGATCCTTCATCTGATGGT	0.423000													12	18					0	0	0.001855	0	0
GPC3	2719	broad.mit.edu	37	X	132670163	132670163	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:132670163G>A	ENST00000370818.3	-	8	2177	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	GPC3_ENST00000394299.2_Silent_p.L601L|GPC3_ENST00000543339.1_Silent_p.L524L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	578						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CAGTGCACCAGGAAGAAGAAG	0.507000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				30	9					0	0	0.002445	0	0
SEPT12	124404	broad.mit.edu	37	16	4834041	4834041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:4834041C>T	ENST00000268231.8	-	5	666	c.403G>A	c.(403-405)Gag>Aag	p.E135K	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCGTATTGCTCGTTGATGTAG	0.627000													44	99					0	0	0.003610	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547696	9547696	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:9547696G>A	ENST00000287585.6	-	3	883	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TCTGTTTGCCGGTTGCCCAGC	0.652000													59	70					0	0	0.003610	0	0
ABCC4	10257	broad.mit.edu	37	13	95830039	95830039	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:95830039T>C	ENST00000376887.4	-	13	1763	c.1649A>G	c.(1648-1650)tAt>tGt	p.Y550C	ABCC4_ENST00000412704.1_Missense_Mutation_p.Y550C|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y550C|ABCC4_ENST00000536256.1_Missense_Mutation_p.Y475C|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	550	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGCATCTTGATACACTGCTCT	0.433000													14	34					0	0	0.006122	0	0
DTX1	1840	broad.mit.edu	37	12	113534561	113534561	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:113534561C>T	ENST00000257600.3	+	9	2183	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	560					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGACTCATCTTCACTATCG	0.637000													6	16					0	0	0.001984	0	0
TRPM5	29850	broad.mit.edu	37	11	2436058	2436058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:2436058C>T	ENST00000452833.1	-	11	1645	c.1637G>A	c.(1636-1638)gGt>gAt	p.G546D	TRPM5_ENST00000155858.6_Missense_Mutation_p.G544D|TRPM5_ENST00000528453.1_Missense_Mutation_p.G544D|TRPM5_ENST00000533060.1_Missense_Mutation_p.G544D			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	544						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCTGCCACACCTTCCTGGCC	0.701000													57	42					0	0	0.003610	0	0
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:124180280C>T	ENST00000357821.2	-	1	453	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498000													7	10					0	0	0.001984	0	0
MLH3	27030	broad.mit.edu	37	14	75513442	75513442	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:75513442G>A	ENST00000355774.2	-	2	3132	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	MLH3_ENST00000238662.7_Missense_Mutation_p.P973S|MLH3_ENST00000556740.1_Missense_Mutation_p.P973S|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.P973S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	973					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTATTATAGGGCAATACCAAA	0.353000								Mismatch excision repair (MMR)					21	36					0	0	0.001523	0	0
CPED1	79974	broad.mit.edu	37	7	120935653	120935653	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:120935653G>A	ENST00000310396.5	+	23	3495	c.3028G>A	c.(3028-3030)Gtt>Att	p.V1010I		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AATAAATCAGGTTTGTTCTGA	0.428000													28	69					0	0	0.008361	0	0
RRP8	23378	broad.mit.edu	37	11	6623270	6623270	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:6623270C>T	ENST00000254605.6	-	2	392	c.275G>A	c.(274-276)gGg>gAg	p.G92E	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	92					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TTTCTTCTTCCCTTTCTTCCC	0.468000													24	42					0	0	0.002780	0	0
ZNF607	84775	broad.mit.edu	37	19	38190505	38190505	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38190505C>T	ENST00000355202.4	-	5	1122	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G175E	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAGACCTTCCCACATTCTTC	0.398000													34	47					0	0	0.002445	0	0
GDF5	8200	broad.mit.edu	37	20	34022117	34022117	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:34022117C>T	ENST00000374372.1	-	4	1599	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	GDF5_ENST00000374369.3_Missense_Mutation_p.D366N|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S54L			P43026	GDF5_HUMAN	growth differentiation factor 5	366					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACGGTCTTATCGTCCTGGCCA	0.607000													70	100					0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829347	146829347	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:146829347G>A	ENST00000361727.3	+	8	1610	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	365	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAAATTTGAGCTTTTCTTGT	0.433000										HNSCC(39;0.1)			11	38					0	0	0.000978	0	0
PDHA2	5161	broad.mit.edu	37	4	96761447	96761447	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:96761447C>T	ENST00000295266.4	+	1	209	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	49					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAGGGTCCCCCTGTCACTACA	0.478000													17	18					0	0	0.006122	0	0
PDZD3	79849	broad.mit.edu	37	11	119059780	119059780	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:119059780G>A	ENST00000531114.1	+	8	2101	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	PDZD3_ENST00000525131.1_Missense_Mutation_p.G439R|PDZD3_ENST00000355547.5_Missense_Mutation_p.G452R|PDZD3_ENST00000392817.2_Missense_Mutation_p.G518R|PDZD3_ENST00000322712.4_Missense_Mutation_p.G438R			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	518	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGAAGTGAACGGGTATCCTGT	0.632000													27	40					0	0	0.005443	0	0
PLK3	1263	broad.mit.edu	37	1	45270013	45270013	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:45270013G>A	ENST00000372201.4	+	12	1584	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	449						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CATGACAGCGGAACAGAACCC	0.612000													35	86					0	0	0.004878	0	0
RING1	6015	broad.mit.edu	37	6	33177517	33177517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:33177517C>T	ENST00000374656.4	+	3	401	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	65	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAAGGAGTGCCTCCACAGATT	0.512000													23	47					0	0	0.002299	0	0
IMPG2	50939	broad.mit.edu	37	3	100963420	100963420	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:100963420G>A	ENST00000193391.7	-	13	1942	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	585					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CATCTGGCAGGAAAGGGCTCA	0.433000													35	54					0	0	0.003271	0	0
COL22A1	169044	broad.mit.edu	37	8	139895407	139895407	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:139895407G>A	ENST00000303045.6	-	2	455	c.9C>T	c.(7-9)ggC>ggT	p.G3G	COL22A1_ENST00000435777.1_Silent_p.G3G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	3					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)			TCCCTCGGAGGCCGGCCATGG	0.662000										HNSCC(7;0.00092)			6	5					0	0	0.004482	0	0
GIGYF2	26058	broad.mit.edu	37	2	233680381	233680381	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:233680381G>A	ENST00000373566.3	+	20	2405	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L	GIGYF2_ENST00000452341.2_Silent_p.L545L|GIGYF2_ENST00000373563.4_Silent_p.L714L|GIGYF2_ENST00000409547.1_Silent_p.L714L|GIGYF2_ENST00000409451.3_Silent_p.L735L|GIGYF2_ENST00000409480.1_Silent_p.L736L|GIGYF2_ENST00000409196.3_Silent_p.L708L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	714	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCTTCCTCTGGACACCACGA	0.488000													21	28					0	0	0.001882	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706833	40706833	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:40706833C>T	ENST00000454349.2	+	17	4482	c.4271C>T	c.(4270-4272)gCc>gTc	p.A1424V	TNRC6B_ENST00000402203.1_Missense_Mutation_p.A620V|TNRC6B_ENST00000335727.8_Missense_Mutation_p.A1314V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.A620V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1424					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTATAGTGGCCCCTGGTAAA	0.463000													9	20					0	0	0.006214	0	0
RBP3	5949	broad.mit.edu	37	10	48389174	48389174	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:48389174G>A	ENST00000224600.4	-	1	1817	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	568	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)	TGCCCGCGGTGATCTCACCTA	0.667000													33	39					0	0	0.002836	0	0
PRKCE	5581	broad.mit.edu	37	2	46378243	46378243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:46378243G>A	ENST00000306156.3	+	13	2122	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	599	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCTGATGTACGAGATGATGGC	0.567000													14	25					0	0	0.004990	0	0
FCER1A	2205	broad.mit.edu	37	1	159277548	159277548	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159277548G>A	ENST00000368115.1	+	6	699	c.600G>A	c.(598-600)gaG>gaA	p.E200E	FCER1A_ENST00000368114.1_Silent_p.E167E	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	200						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCCGCGTGAGAAGTACTGGC	0.413000													16	36					0	0	0.004007	0	0
IL27	246778	broad.mit.edu	37	16	28511060	28511060	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:28511060G>A	ENST00000356897.1	-	5	666	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	215					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CACGGCCCGAGATAAGACGAG	0.667000													9	16					0	0	0.008291	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	73					0	0	0.003080	0	0
FLNC	2318	broad.mit.edu	37	7	128486908	128486908	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:128486908A>C	ENST00000325888.8	+	24	4498	c.4237A>C	c.(4237-4239)Act>Cct	p.T1413P	FLNC_ENST00000346177.6_Missense_Mutation_p.T1413P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1413					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCCCCTTCACTCCTGGAGA	0.612000													30	73					0	0	0.002445	0	0
LRRC15	131578	broad.mit.edu	37	3	194080633	194080633	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:194080633G>A	ENST00000347624.3	-	2	1225	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	LRRC15_ENST00000428839.1_Silent_p.L386L|LRRC15_ENST00000439944.2_Silent_p.L386L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	380						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TATTCCCTGGGAGCTGTCTGA	0.587000													14	24					0	0	0.003163	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983830	1983830	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:1983830G>A	ENST00000382722.5	-	18	2180	c.1818C>T	c.(1816-1818)gcC>gcT	p.A606A	CACNA2D4_ENST00000586184.1_Silent_p.A606A|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Silent_p.A581A|CACNA2D4_ENST00000588077.1_Silent_p.A542A|CACNA2D4_ENST00000585708.1_Silent_p.A542A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	606						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TATTGATCATGGCTGTTCTCA	0.493000													14	25					0	0	0.003163	0	0
ACKR3	57007	broad.mit.edu	37	2	237489778	237489778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:237489778C>T	ENST00000272928.3	+	2	980	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CTTTGCCGTTCCCTTCTCCAT	0.562000													41	73					0	0	0.008740	0	0
C1orf173	127254	broad.mit.edu	37	1	75065536	75065536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:75065536C>T	ENST00000326665.5	-	11	1787	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	C1orf173_ENST00000420661.2_Missense_Mutation_p.M326I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	523	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTATTCCATTCATTTGAACAT	0.393000													17	38					0	0	0.004990	0	0
GPBP1	65056	broad.mit.edu	37	5	56557064	56557064	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:56557064C>T	ENST00000424459.3	+	12	2552	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	GPBP1_ENST00000511209.1_Silent_p.P398P|GPBP1_ENST00000454432.2_Silent_p.P426P|GPBP1_ENST00000514387.2_Silent_p.P235P|GPBP1_ENST00000264779.6_Silent_p.P413P|GPBP1_ENST00000506184.2_Silent_p.P406P|GPBP1_ENST00000538707.1_Silent_p.P413P	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CATGTGCTCCCTTAACTGAGG	0.358000													39	80					0	0	0.002852	0	0
OR6B2	389090	broad.mit.edu	37	2	240968962	240968962	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:240968962C>T	ENST00000402971.2	-	1	944	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTTAAATTCCTTGTTCCTCA	0.433000													43	80					0	0	0.003610	0	0
RTN3	10313	broad.mit.edu	37	11	63449115	63449115	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:63449115G>C	ENST00000377819.5	+	1	161	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RTN3_ENST00000339997.4_Missense_Mutation_p.E3Q|RTN3_ENST00000356000.3_Missense_Mutation_p.E3Q|RTN3_ENST00000540798.1_Missense_Mutation_p.E3Q|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000537981.1_Missense_Mutation_p.E3Q|RTN3_ENST00000341307.2_Missense_Mutation_p.E3Q|RTN3_ENST00000354497.4_Missense_Mutation_p.E3Q	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	3					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGCCATGGCGGAGCCGTCGGC	0.677000													13	34					0	0	0.002450	0	0
SLIT2	9353	broad.mit.edu	37	4	20619207	20619207	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:20619207C>T	ENST00000504154.1	+	36	4534	c.4282C>T	c.(4282-4284)Ctt>Ttt	p.L1428F	SLIT2_ENST00000273739.5_Missense_Mutation_p.L1441F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1424F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L1420F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1428					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGTGCAGGCTTTCAGGTCT	0.562000													12	16					0	0	0.000978	0	0
PC	5091	broad.mit.edu	37	11	66619376	66619376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:66619376G>A	ENST00000393960.1	-	16	2148	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	PC_ENST00000393958.2_Missense_Mutation_p.P623S|PC_ENST00000393955.2_Missense_Mutation_p.P623S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	623	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCCGCCAGGGGCACTCATAC	0.637000													24	21					0	0	0.003954	0	0
CHD1	1105	broad.mit.edu	37	5	98206457	98206457	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:98206457G>A	ENST00000284049.3	-	28	4061	c.3912C>T	c.(3910-3912)acC>acT	p.T1304T	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1304					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTCTGCACGGGTCTGCAACT	0.363000													28	43					0	0	0.006320	0	0
TMC5	79838	broad.mit.edu	37	16	19488761	19488761	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:19488761G>A	ENST00000396229.2	+	13	2839		c.e13-1		TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTCTGTTTAGAAACATCTTT	0.398000													24	42					0	0	0.003330	0	0
BRPF1	7862	broad.mit.edu	37	3	9785336	9785336	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:9785336C>T	ENST00000383829.2	+	8	2790	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	BRPF1_ENST00000433861.2_Silent_p.L790L|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000457855.1_Silent_p.L790L|BRPF1_ENST00000302054.3_Silent_p.L790L|BRPF1_ENST00000424362.1_Silent_p.L789L	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	790	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAAGCTGCTTCTGGAGCGGCT	0.587000													16	23					0	0	0.004007	0	0
ENPEP	2028	broad.mit.edu	37	4	111398146	111398146	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:111398146C>T	ENST00000265162.5	+	1	918	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	192					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCATGGAGTTCGCCGGCTGGC	0.507000													39	44					0	0	0.004878	0	0
IQSEC1	9922	broad.mit.edu	37	3	12953214	12953214	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:12953214G>A	ENST00000273221.4	-	10	2589	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	791	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCTTCTGGAAGATCTTGG	0.557000													25	31					0	0	0.002780	0	0
OR6C6	283365	broad.mit.edu	37	12	55688891	55688891	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:55688891G>A	ENST00000358433.2	-	1	125	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGATGATGATGATTAAGTTCC	0.418000													13	24					0	0	0.001855	0	0
HERC2	8924	broad.mit.edu	37	15	28544556	28544556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:28544556G>A	ENST00000261609.7	-	3	287	c.179C>T	c.(178-180)cCt>cTt	p.P60L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	60					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTTTTCTAGGAGGGAGCTC	0.378000													30	55					0	0	0.001786	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456559	5456559	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:5456559C>G	ENST00000222033.4	+	1	1134	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	353						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGTGCAAACAGTCGGTGGC	0.642000													37	43					0	0	0.004289	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424192	69424192	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:69424192G>A	ENST00000333026.3	+	6	785	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	229					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGGTGAGAACGAAGTTTTCAA	0.468000													5	2					0	0	0.000602	0	0
TENM2	57451	broad.mit.edu	37	5	167626914	167626914	+	Missense_Mutation	SNP	C	C	T	rs113287543		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:167626914C>T	ENST00000519204.1	+	16	2963	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	TENM2_ENST00000518659.1_Missense_Mutation_p.R1070C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1070C|TENM2_ENST00000520394.1_Missense_Mutation_p.R838C|TENM2_ENST00000403607.2_Missense_Mutation_p.R894C					teneurin transmembrane protein 2																		TGTGAAACTTCGCTATCTGAG	0.493000													51	99					0	0	0.003610	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024321	27024321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:27024321G>A	ENST00000354760.3	+	5	405	c.370G>A	c.(370-372)Gat>Aat	p.D124N	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	124	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AGAGCTGAGCGATGACTATCC	0.547000													40	62					0	0	0.006230	0	0
DNAH5	1767	broad.mit.edu	37	5	13762974	13762974	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:13762974C>T	ENST00000265104.4	-	60	10242	c.10138G>A	c.(10138-10140)Gaa>Aaa	p.E3380K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3380	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)					CTCAAAAATTCTATCACCTCT	0.363000									Kartagener syndrome				14	25					0	0	0.002450	0	0
EPAS1	2034	broad.mit.edu	37	2	46611754	46611754	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:46611754C>T	ENST00000263734.3	+	16	3078	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	856	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTCCACGCTCCTGCAAGGAG	0.642000													20	27					0	0	0.007413	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								11	21					0	0	0.000978	0	0
HECW1	23072	broad.mit.edu	37	7	43503334	43503334	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:43503334C>T	ENST00000395891.1	+	14	3332	c.2727C>T	c.(2725-2727)gcC>gcT	p.A909A	HECW1_ENST00000453890.1_Silent_p.A875A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	909					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGAGCAAGCCCCAGCAGGAG	0.527000													53	35					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313760	54313760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:54313760C>T	ENST00000324134.6	-	3	1321	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	NLRP12_ENST00000354278.3_Missense_Mutation_p.G385S|NLRP12_ENST00000351894.4_Missense_Mutation_p.G385S|NLRP12_ENST00000391773.1_Missense_Mutation_p.G385S|NLRP12_ENST00000391775.3_Missense_Mutation_p.G385S|NLRP12_ENST00000345770.5_Missense_Mutation_p.G385S|NLRP12_ENST00000391772.1_Missense_Mutation_p.G385S|NLRP12_ENST00000535162.1_Missense_Mutation_p.G385S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	385	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGACTTGGCCCGCCTGCTCT	0.562000													74	136					0	0	0.003610	0	0
ITGB8	3696	broad.mit.edu	37	7	20371473	20371473	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:20371473G>A	ENST00000222573.3	+	1	728	c.44G>A	c.(43-45)tGc>tAc	p.C15Y	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	15					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCATTTGTCTGCCTGCAAAAC	0.602000													18	21					0	0	0.008871	0	0
ZNF112	7665	broad.mit.edu	37	19	44832316	44832316	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:44832316C>T	ENST00000354340.4	-	4	2045	c.1994G>A	c.(1993-1995)gGt>gAt	p.G665D	ZNF112_ENST00000337401.4_Missense_Mutation_p.G671D|ZNF112_ENST00000536500.1_Missense_Mutation_p.G688D	NM_013380.3	NP_037512.3			zinc finger protein 112																		GAAGCCTTTACCACATTCTTC	0.448000													22	14					0	0	0.001523	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967792	1967792	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:1967792G>A	ENST00000382722.5	-	20	2321	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	CACNA2D4_ENST00000586184.1_Silent_p.S653S|CACNA2D4_ENST00000585732.1_Silent_p.S514S|CACNA2D4_ENST00000587995.1_Silent_p.S628S|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Silent_p.S589S|CACNA2D4_ENST00000585708.1_Silent_p.S589S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	653						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGTGGCCCCGGGACAGCACCA	0.587000													22	16					0	0	0.003954	0	0
FRRS1	391059	broad.mit.edu	37	1	100195221	100195221	+	Silent	SNP	A	A	G	rs76965331	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:100195221A>G	ENST00000414213.1	-	8	1444	c.843T>C	c.(841-843)ccT>ccC	p.P281P	FRRS1_ENST00000287474.5_Silent_p.P281P			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	281	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGTCCATTACAGGGTGACTTC	0.493000													9	21					0	0	0.008291	0	0
RIOK1	83732	broad.mit.edu	37	6	7393483	7393483	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7393483G>A	ENST00000379834.2	+	2	730	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	75							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTGGGATGAAGGAGTTGGAAA	0.438000													33	38					0	0	0.003271	0	0
TAGAP	117289	broad.mit.edu	37	6	159457989	159457989	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:159457989C>T	ENST00000367066.3	-	10	1397	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E178K	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	356					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACAATGGGCTCTGGGCTGACC	0.647000													25	48					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82764940	82764940	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82764940C>T	ENST00000423517.2	-	3	2263	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	PCLO_ENST00000333891.8_Missense_Mutation_p.M642I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	588	Pro-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						GAGCTCTTTTCATTTGACAGT	0.413000													7	17					0	0	0.004482	0	0
USP32	84669	broad.mit.edu	37	17	58299810	58299810	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:58299810A>G	ENST00000300896.4	-	15	1903	c.1709T>C	c.(1708-1710)cTt>cCt	p.L570P	USP32_ENST00000592339.1_Missense_Mutation_p.L240P	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	570	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAGTGATAAAGTGCTCTCCA	0.433000													123	201					0	0	0.003610	0	0
CRKL	1399	broad.mit.edu	37	22	21288222	21288222	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:21288222C>T	ENST00000354336.3	+	2	976	c.467C>T	c.(466-468)cCt>cTt	p.P156L		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	156	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	p.P156H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATAGAGAAGCCTGAAGAACAG	0.483000													44	77					0	0	0.002522	0	0
LOC440040	440040	broad.mit.edu	37	11	49598421	49598421	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:49598421G>A	ENST00000527477.1	+	0	1025																											TAGTGAAGAGGTACAACTGGA	0.428000													11	23					0	0	0.008291	0	0
MDN1	23195	broad.mit.edu	37	6	90405698	90405698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:90405698G>A	ENST00000369393.3	-	61	9512	c.9397C>T	c.(9397-9399)Caa>Taa	p.Q3133*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3133*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3133					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)		CCCTGGAGTTGGGAATCCGTG	0.512000													35	86					0	0	0.002852	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492212	63492212	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:63492212T>G	ENST00000523211.1	+	2	301	c.169T>G	c.(169-171)Tac>Gac	p.Y57D	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.Y57D	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	57						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GACCATTCAGTACAGACCTCG	0.318000													11	18					0	0	0.001368	0	0
MAP2	4133	broad.mit.edu	37	2	210559632	210559632	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:210559632C>T	ENST00000360351.4	+	7	3244	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L	MAP2_ENST00000447185.1_Missense_Mutation_p.S909L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	913					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACAGACCTTTCACTGATTGAA	0.458000													21	27					0	0	0.002780	0	0
IP6K3	117283	broad.mit.edu	37	6	33693340	33693340	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:33693340C>T	ENST00000451316.1	-	6	1178	c.643G>A	c.(643-645)Gat>Aat	p.D215N	IP6K3_ENST00000293756.4_Missense_Mutation_p.D215N	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	215	Substrate binding (By similarity).				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						ATCTTCAGATCCAGGACACAG	0.557000													24	29					0	0	0.003330	0	0
SORBS2	8470	broad.mit.edu	37	4	186545434	186545434	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:186545434G>A	ENST00000431808.1	-	14	1700	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.I283I|SORBS2_ENST00000355634.5_Silent_p.I479I|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.I379I|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	379						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCCGGGATTTGATTTTGGGAG	0.537000													26	34					0	0	0.004656	0	0
NEXN	91624	broad.mit.edu	37	1	78383849	78383849	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:78383849G>A	ENST00000330010.8	+	4	443	c.146G>A	c.(145-147)aGa>aAa	p.R49K	NEXN_ENST00000294624.8_Missense_Mutation_p.R113K|NEXN_ENST00000457030.1_Missense_Mutation_p.R113K|NEXN_ENST00000334785.7_Missense_Mutation_p.R113K	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	113	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAGAAACAAAGACAAGAGGAA	0.338000													19	28					0	0	0.001523	0	0
OSGIN2	734	broad.mit.edu	37	8	90937126	90937126	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:90937126G>A	ENST00000451899.2	+	6	1276	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	OSGIN2_ENST00000297438.2_Missense_Mutation_p.G295E	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	295					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATAAACAAAGGAAAGTTGCGT	0.443000													31	37					0	0	0.003271	0	0
RNF175	285533	broad.mit.edu	37	4	154631608	154631608	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:154631608G>A	ENST00000347063.4	-	9	1272	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	300						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCCAATCCAGGATTTGTCCAT	0.428000													3	7					0	0	0.004672	0	0
CNTLN	54875	broad.mit.edu	37	9	17409438	17409438	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:17409438G>A	ENST00000380647.3	+	16	2847	c.2763G>A	c.(2761-2763)caG>caA	p.Q921Q	CNTLN_ENST00000262360.5_Silent_p.Q921Q|CNTLN_ENST00000425824.1_Silent_p.Q921Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	921						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATAGTACAGACATATTTAA	0.318000													50	100					0	0	0.003610	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457335	45457335	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:45457335G>A	ENST00000548424.1	+	0	448																											CCCAAATCTGGGAGTGTTCTT	0.478000													15	21					0	0	0.003163	0	0
C12orf50	160419	broad.mit.edu	37	12	88379629	88379629	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:88379629G>T	ENST00000298699.2	-	11	1304	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.P336Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	375										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GACCTCACCTGGACTGAGGTT	0.502000													17	43					6.94344e-10	9.20963e-10	0.006122	1	0
NME3	4832	broad.mit.edu	37	16	1821167	1821167	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:1821167G>A	ENST00000219302.3	-	3	378	c.183C>T	c.(181-183)tcC>tcT	p.S61S	NME3_ENST00000563498.1_5'UTR	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	61					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GCAGCTCCTCGGAGGCCTGCG	0.721000													9	10					0	0	0.008291	0	0
TRPC7	57113	broad.mit.edu	37	5	135692623	135692623	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:135692623G>A	ENST00000513104.1	-	2	735	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TRPC7_ENST00000355180.3_Silent_p.F151F|TRPC7_ENST00000426057.2_Silent_p.F151F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	151					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTAGGCATAGAAGTCGTCGT	0.652000													57	90					0	0	0.003610	0	0
KMT2C	58508	broad.mit.edu	37	7	151970806	151970806	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:151970806G>A	ENST00000355193.2	-	7	1214	c.996C>T	c.(994-996)gaC>gaT	p.D332D	KMT2C_ENST00000262189.6_Silent_p.D332D					lysine (K)-specific methyltransferase 2C																		CAGGAGCTTGGTCAATGTGTT	0.383000													7	165					0	0	0.004482	0	0
DDIT3	1649	broad.mit.edu	37	12	57911062	57911062	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:57911062C>T	ENST00000551116.1	-	3	464	c.197G>A	c.(196-198)gGa>gAa	p.G66E	DDIT3_ENST00000346473.3_Missense_Mutation_p.G43E|DDIT3_ENST00000547303.1_Missense_Mutation_p.G43E|DDIT3_ENST00000552740.1_Missense_Mutation_p.G66E	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	43					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTCTTCATTTCCAGGAGGTGA	0.468000			T	FUS	liposarcoma								19	26					0	0	0.006122	0	0
ATP9A	10079	broad.mit.edu	37	20	50310600	50310600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:50310600C>T	ENST00000338821.5	-	7	853	c.589G>A	c.(589-591)Gac>Aac	p.D197N	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	197					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCTTCCAGTCCGTCTCCCCA	0.637000													33	43					0	0	0.004289	0	0
NEU1	4758	broad.mit.edu	37	6	31828335	31828335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31828335C>A	ENST00000375631.4	-	4	808	c.679G>T	c.(679-681)Gga>Tga	p.G227*		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	227			G -> R (in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CAGAAGACTCCGTCCCGCTCC	0.602000													9	598					0.00448238	0.00590136	0.004482	1	0
RIMKLA	284716	broad.mit.edu	37	1	42880262	42880262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:42880262G>A	ENST00000431473.3	+	5	922	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	265	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.D224H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTATCATGGACGATGGCTC	0.502000													94	169					0	0	0.003610	0	0
CDH16	1014	broad.mit.edu	37	16	66943179	66943179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:66943179C>T	ENST00000299752.4	-	17	2576	c.2383G>A	c.(2383-2385)Gta>Ata	p.V795I	CDH16_ENST00000570262.1_Missense_Mutation_p.V715I|CDH16_ENST00000568632.1_Missense_Mutation_p.V698I|CDH16_ENST00000394055.3_Missense_Mutation_p.V773I|CDH16_ENST00000565796.1_Missense_Mutation_p.V756I	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	795					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTATTGCTACCAGGGTGCCT	0.602000													12	19					0	0	0.001368	0	0
KRT2	3849	broad.mit.edu	37	12	53041570	53041570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:53041570C>T	ENST00000309680.3	-	6	1213	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	398	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGGTTCAGCTCGCTGATCTCT	0.572000													11	30					0	0	0.000978	0	0
FCGBP	8857	broad.mit.edu	37	19	40411909	40411909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:40411909C>T	ENST00000221347.6	-	7	3726	c.3719G>A	c.(3718-3720)gGc>gAc	p.G1240D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1240						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)			GCCCAAGCTGCCACCGGATGG	0.677000													23	40					0	0	0.003330	0	0
MARCO	8685	broad.mit.edu	37	2	119739818	119739818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:119739818C>T	ENST00000541757.1	+	12	1134	c.754C>T	c.(754-756)Cct>Tct	p.P252S	MARCO_ENST00000327097.4_Missense_Mutation_p.P330S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	330	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGCTGGCTCCCCTGGGCGAGC	0.607000													48	59					0	0	0.002852	0	0
SSPO	23145	broad.mit.edu	37	7	149500864	149500864	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:149500864G>A	ENST00000378016.2	+	0	8182							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)			GGCTCCCTGCGACCGCTCCTG	0.697000													7	16					0	0	0.001984	0	0
ZNF749	388567	broad.mit.edu	37	19	57956849	57956849	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:57956849C>T	ENST00000334181.4	+	3	2583	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAAAAAGGCCTTAGTGGAGT	0.388000													18	60					0	0	0.008871	0	0
ACOX1	51	broad.mit.edu	37	17	73945304	73945304	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:73945304G>A	ENST00000537812.1	-	12	2256	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	ACOX1_ENST00000301608.4_Silent_p.F574F|ACOX1_ENST00000293217.5_Silent_p.F574F	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	574					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGACCTGAAGGAAATCCCCCG	0.393000													43	74					0	0	0.008740	0	0
DCHS2	54798	broad.mit.edu	37	4	155225908	155225908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:155225908C>T	ENST00000357232.3	-	17	4152	c.4153G>A	c.(4153-4155)Gaa>Aaa	p.E1385K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1385	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTGGTTTTCCAGAACCTCA	0.418000													9	18					0	0	0.006214	0	0
USP9X	8239	broad.mit.edu	37	X	40982969	40982969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:40982969C>T	ENST00000324545.7	+	2	721	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q30*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	30					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCCCCTCCAACAGAATCAGGT	0.557000													8	3					0	0	0.003080	0	0
GMPPA	29926	broad.mit.edu	37	2	220370189	220370189	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:220370189C>T	ENST00000358215.3	+	9	1134	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GMPPA_ENST00000341142.3_Silent_p.L255L|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Silent_p.L255L|GMPPA_ENST00000373908.1_Silent_p.L255L|GMPPA_ENST00000373917.3_Silent_p.L255L	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	255					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GTTCAGCCCTCTACGCCTCCC	0.662000													4	11					0	0	0.000248	0	0
OR10A6	390093	broad.mit.edu	37	11	7949601	7949601	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:7949601G>A	ENST00000309838.2	-	1	608	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAATCAAAAAGGTGCCTGTGA	0.393000													7	8					0	0	0.001984	0	0
HDAC4	9759	broad.mit.edu	37	2	240033241	240033241	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:240033241G>A	ENST00000345617.3	-	14	2735	c.1944C>T	c.(1942-1944)acC>acT	p.T648T	HDAC4_ENST00000543185.1_Silent_p.T232T|HDAC4_ENST00000541256.1_Silent_p.T622T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	648					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCTCGGCTTGGTGGGGGGCT	0.706000													11	18					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10435093	10435093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:10435093C>T	ENST00000245503.5	-	22	2938	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	MYH2_ENST00000397183.2_Missense_Mutation_p.E852K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	852					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTCCTTCTCAGTTTCTGCA	0.428000													33	46					0	0	0.005524	0	0
IL1B	3553	broad.mit.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:113591100C>T	ENST00000263341.2	-	4	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	51					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.R51Q(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTCGGAGATTCGTAGCTGGAT	0.627000													44	70					0	0	0.003214	0	0
ADAP2	55803	broad.mit.edu	37	17	29283435	29283435	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:29283435G>A	ENST00000330889.3	+	10	1394	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	ADAP2_ENST00000580525.1_Silent_p.L359L|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	353	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGAATGGCTGGAAAGTTTGC	0.567000													20	34					0	0	0.003330	0	0
DIP2C	22982	broad.mit.edu	37	10	735477	735477	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:735477C>T	ENST00000280886.6	-	1	129	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	14						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCCCGCACCTCCAGGGGCA	0.791000													3	6					0	0	0.000602	0	0
MMP10	4319	broad.mit.edu	37	11	102650388	102650388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:102650388C>T	ENST00000279441.4	-	2	230	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	65			G -> R (in dbSNP:rs17293607).		collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTTCTGCATTCCTTGGATTTT	0.438000													11	12					0	0	0.008291	0	0
KLF14	136259	broad.mit.edu	37	7	130418365	130418365	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:130418365A>G	ENST00000310992.4	-	1	523	c.496T>C	c.(496-498)Ttc>Ctc	p.F166L		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCTCCAGAGAACCCACCAGAG	0.756000													49	116					0	0	0.003610	0	0
SEL1L3	23231	broad.mit.edu	37	4	25803972	25803972	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:25803972G>A	ENST00000399878.3	-	11	2011	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S595L|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S477L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	630						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTAGGCATACGACAGTTCCCA	0.488000													19	20					0	0	0.002299	0	0
C8orf74	203076	broad.mit.edu	37	8	10557906	10557906	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:10557906C>T	ENST00000304519.5	+	4	839	c.810C>T	c.(808-810)acC>acT	p.T270T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	270										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCATCACCAGCCACGCAG	0.582000													14	18					0	0	0.001855	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224143	27224143	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:27224143C>T	ENST00000361720.5	-	2	548	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	175						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGTCAGCCAGGGTGAAGG	0.567000													24	24					0	0	0.003330	0	0
FMN2	56776	broad.mit.edu	37	1	240370231	240370231	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:240370231G>A	ENST00000319653.9	+	5	2349	c.2119G>A	c.(2119-2121)Ggt>Agt	p.G707S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	707					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTGGCCAGTGGTCATCAAGG	0.483000													16	35					0	0	0.006122	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	rs143406726		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					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)		ACCGTCTTGCGATCCTGCTCC	0.562000													33	44					0	0	0.003271	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220662	146220662	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:146220662G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						GCATGGAGTGGAGGTGAAAAA	0.408000													21	59					0	0	0.003330	0	0
THSD7B	80731	broad.mit.edu	37	2	137990576	137990576	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:137990576G>A	ENST00000409968.1	+	9	2201	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E675K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E644K					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)		CCCTTGTTCTGAGGACACATT	0.522000													15	23					0	0	0.004990	0	0
BACE1	23621	broad.mit.edu	37	11	117167627	117167627	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:117167627G>A	ENST00000313005.6	-	2	772	c.312C>T	c.(310-312)gcC>gcT	p.A104A	BACE1_ENST00000528053.1_Silent_p.A104A|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Silent_p.A104A|BACE1_ENST00000445823.2_Silent_p.A104A|BACE1_ENST00000428381.2_Silent_p.A104A	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	104					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AGGGGTGGGGGGCAGCACCCA	0.567000													23	57					0	0	0.007291	0	0
BCAP31	10134	broad.mit.edu	37	X	152981107	152981107	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:152981107C>T	ENST00000458587.2	-	4	861	c.432G>A	c.(430-432)acG>acA	p.T144T	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000345046.6_Silent_p.T77T|BCAP31_ENST00000441714.1_Silent_p.T77T	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	77					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	p.T77T(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTTTTCCGTCACATCAT	0.527000													58	20					0	0	0.003610	0	0
CHTF18	63922	broad.mit.edu	37	16	840372	840372	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:840372C>T	ENST00000317063.6	+	7	1316	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	CHTF18_ENST00000262315.9_Missense_Mutation_p.A242V|CHTF18_ENST00000455171.2_Missense_Mutation_p.A270V|CHTF18_ENST00000491530.1_3'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	242					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTTCAGGAGGCCCAGAAGCTT	0.657000													11	14					0	0	0.008291	0	0
ME3	10873	broad.mit.edu	37	11	86159199	86159199	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:86159199G>A	ENST00000543262.1	-	11	1556	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Silent_p.A410A|ME3_ENST00000359636.2_Silent_p.A410A	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	410					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TACCTATGATGGCTGTGGGCT	0.557000													26	37					0	0	0.004656	0	0
POLD1	5424	broad.mit.edu	37	19	50918994	50918994	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:50918994G>A	ENST00000440232.2	+	22	2784	c.2731G>A	c.(2731-2733)Gac>Aac	p.D911N	POLD1_ENST00000599857.1_Missense_Mutation_p.D911N|POLD1_ENST00000595904.1_Missense_Mutation_p.D937N	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	911					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GAGGAAGCGGGACCCCGGGAG	0.706000								DNA polymerases (catalytic subunits)					4	4					0	0	0.000602	0	0
CACNA1C	775	broad.mit.edu	37	12	2719802	2719802	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:2719802C>T	ENST00000399655.1	+	28	3919	c.3654C>T	c.(3652-3654)tcC>tcT	p.S1218S	CACNA1C_ENST00000335762.5_Silent_p.S1243S|CACNA1C_ENST00000406454.3_Silent_p.S1218S|CACNA1C_ENST00000399638.1_Silent_p.S1218S|CACNA1C_ENST00000399595.1_Silent_p.S1218S|CACNA1C_ENST00000399644.1_Silent_p.S1218S|CACNA1C_ENST00000399606.1_Silent_p.S1238S|CACNA1C_ENST00000399637.1_Silent_p.S1218S|CACNA1C_ENST00000327702.7_Silent_p.S1218S|CACNA1C_ENST00000399634.1_Silent_p.S1218S|CACNA1C_ENST00000399621.1_Silent_p.S1218S|CACNA1C_ENST00000480911.1_Silent_p.S1218S|CACNA1C_ENST00000347598.4_Silent_p.S1238S|CACNA1C_ENST00000399603.1_Silent_p.S1218S|CACNA1C_ENST00000344100.3_Silent_p.S1218S|CACNA1C_ENST00000399617.1_Silent_p.S1218S|CACNA1C_ENST00000399629.1_Silent_p.S1218S|CACNA1C_ENST00000399641.1_Silent_p.S1218S|CACNA1C_ENST00000399649.1_Silent_p.S1218S|CACNA1C_ENST00000399597.1_Silent_p.S1218S|CACNA1C_ENST00000402845.3_Silent_p.S1218S|CACNA1C_ENST00000399591.1_Silent_p.S1218S|CACNA1C_ENST00000399601.1_Silent_p.S1218S	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	1238					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)	TGGTCAACTCCACCTACTTCG	0.592000													22	30					0	0	0.001882	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415936	25415936	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:25415936G>A	ENST00000549301.1	+	0	327				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA																							TGCTCAATAGGATTACGCTGA	0.532000													84	167					0	0	0.003610	0	0
AMHR2	269	broad.mit.edu	37	12	53818634	53818634	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:53818634C>T	ENST00000257863.4	+	3	454	c.374C>T	c.(373-375)cCt>cTt	p.P125L	AMHR2_ENST00000379791.3_Missense_Mutation_p.P125L|AMHR2_ENST00000550311.1_Missense_Mutation_p.P125L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	125					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATCTGCCTCCTCCAGGGAGC	0.647000													40	87					0	0	0.003214	0	0
NXPE2	120406	broad.mit.edu	37	11	114569081	114569081	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114569081C>T	ENST00000375475.5	+	3	545	c.447C>T	c.(445-447)ttC>ttT	p.F149F	NXPE2_ENST00000389586.4_Silent_p.F149F					neurexophilin and PC-esterase domain family, member 2																		GTGGGGATTTCCTGAGGGCCA	0.537000													7	5					0	0	0.001984	0	0
ACOX1	51	broad.mit.edu	37	17	73945303	73945303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:73945303G>A	ENST00000537812.1	-	12	2257	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F	ACOX1_ENST00000301608.4_Missense_Mutation_p.L575F|ACOX1_ENST00000293217.5_Missense_Mutation_p.L575F	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	575					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGACCTGAAGGAAATCCCCC	0.393000													43	73					0	0	0.008740	0	0
CCDC54	84692	broad.mit.edu	37	3	107096810	107096810	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:107096810A>G	ENST00000261058.1	+	1	623	c.376A>G	c.(376-378)Atc>Gtc	p.I126V		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	126										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACTAAAGATATCCTCTCTAT	0.383000													10	17					0	0	0.006214	0	0
KY	339855	broad.mit.edu	37	3	134322982	134322982	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:134322982G>A	ENST00000508956.1	-	10	1419	c.1362C>T	c.(1360-1362)acC>acT	p.T454T	KY_ENST00000423778.2_Silent_p.T475T|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	475						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCCCGTCGCTGGTGTGGATGA	0.627000													7	8					0	0	0.001984	0	0
SCN9A	6335	broad.mit.edu	37	2	167089885	167089885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:167089885G>A	ENST00000375387.4	-	21	4232	c.3892C>T	c.(3892-3894)Cct>Tct	p.P1298S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1286S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1297S|SCN9A_ENST00000303354.6_Missense_Mutation_p.P1298S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1297						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)	GCTCTTAGAGGTCTTAAAGCT	0.333000													4	6					0	0	0.000248	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320713	79320713	+	Silent	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:79320713T>C	ENST00000428286.1	-	8	6600	c.5400A>G	c.(5398-5400)gaA>gaG	p.E1800E	PRUNE2_ENST00000376718.3_Silent_p.E2159E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2159					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAATCGAGTTCTGCATTGG	0.493000													44	71					0	0	0.002522	0	0
C3orf67	200844	broad.mit.edu	37	3	58899555	58899555	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:58899555G>A	ENST00000295966.7	-	6	557	c.54C>T	c.(52-54)acC>acT	p.T18T	RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000491845.1_Silent_p.T18T|C3orf67_ENST00000482387.1_Silent_p.T18T|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Intron|RP11-147N17.1_ENST00000463703.1_RNA	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	18										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATATTTCACTGGTGAATGCTA	0.388000													14	12					0	0	0.002450	0	0
NXPE4	54827	broad.mit.edu	37	11	114453428	114453428	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114453428G>T	ENST00000375478.3	-	3	592	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CTGGCCCTCAGGAAATCCCCG	0.577000													7	12					2.74318e-10	3.64937e-10	0.006214	1	0
MAGEA6	4105	broad.mit.edu	37	X	151870013	151870013	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:151870013G>A	ENST00000329342.5	+	3	928	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	235	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGAGGGAAGACAGTAT	0.537000													81	31					0	0	0.003610	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870012	151870012	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:151870012G>A	ENST00000329342.5	+	3	927	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	234	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGGAGGGAAGACAGTA	0.532000													81	30					0	0	0.003610	0	0
MTA2	9219	broad.mit.edu	37	11	62367695	62367695	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:62367695G>A	ENST00000278823.2	-	3	522	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	45	BAH.				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						cgccggaaaagacagacaacc	0.448000													39	53					0	0	0.002522	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464030	50464030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:50464030G>A	ENST00000447370.2	-	2	329	c.239C>T	c.(238-240)cCa>cTa	p.P80L	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P80L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	80	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding	p.P68R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACCCGTCTTTGGGCTGGTCCG	0.597000													16	29					0	0	0.006122	0	0
TRRAP	8295	broad.mit.edu	37	7	98535299	98535299	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:98535299C>T	ENST00000359863.4	+	30	4469	c.4260C>T	c.(4258-4260)gtC>gtT	p.V1420V	TRRAP_ENST00000355540.3_Silent_p.V1420V|TRRAP_ENST00000446306.3_Silent_p.V1419V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1420					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCATAGAAGTCGATCAAATCC	0.408000													17	31					0	0	0.001523	0	0
PALB2	79728	broad.mit.edu	37	16	23635414	23635414	+	Splice_Site	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:23635414A>T	ENST00000261584.4	-	8	2902	c.2748_splice	c.e8-1	p.V917_splice	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	917	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAATACTGGAACCTAAATAAA	0.338000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					6	18					0	0	0.003080	0	0
EHMT2	10919	broad.mit.edu	37	6	31848611	31848611	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31848611G>A	ENST00000395728.3	-	26	3461	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.Y1063Y|EHMT2_ENST00000375528.4_Silent_p.Y1120Y|EHMT2_ENST00000375537.4_Silent_p.Y1097Y			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1097	Interaction with histone H3 (By similarity).|SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CATCTATGCAGTACACCTCTC	0.602000													176	330					0	0	0.003610	0	0
KCNK1	3775	broad.mit.edu	37	1	233802581	233802581	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:233802581C>T	ENST00000366621.3	+	2	764	c.596C>T	c.(595-597)cCg>cTg	p.P199L	KCNK1_ENST00000366620.1_Missense_Mutation_p.P83L|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	199						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTCTTCATCCCGGCCGCTGTC	0.527000													39	41					0	0	0.003610	0	0
BIRC6	57448	broad.mit.edu	37	2	32738066	32738066	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:32738066G>A	ENST00000421745.2	+	54	10547	c.10413G>A	c.(10411-10413)agG>agA	p.R3471R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3471					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)					GAAGTGGCAGGATGAACTACA	0.418000													32	59					0	0	0.004289	0	0
BMP6	654	broad.mit.edu	37	6	7727651	7727651	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7727651G>A	ENST00000283147.6	+	1	622	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	155					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GGCGTCGGAGGGGGAGAGGCA	0.716000													6	16					0	0	0.003080	0	0
PIK3R6	146850	broad.mit.edu	37	17	8739933	8739933	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:8739933C>T	ENST00000311434.9	-	7	631	c.391_splice	c.e7-1	p.G131_splice	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	131					platelet activation	cytosol											GTACAGTGTCCCTGCAAACCA	0.522000													19	32					0	0	0.002780	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696020	99696020	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:99696020G>A	ENST00000370597.3	-	3	683	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R110W|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R110W	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	110						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTCCCCTGCCGGTCCCGCAGC	0.622000													24	33					0	0	0.002299	0	0
TRHDE	29953	broad.mit.edu	37	12	72893289	72893289	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:72893289G>A	ENST00000261180.4	+	6	1557	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	487					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAAGCAGAGGTTTCTGACCG	0.443000													13	15					0	0	0.001368	0	0
LSAMP	4045	broad.mit.edu	37	3	115738448	115738448	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:115738448A>C	ENST00000490035.1	-	3	927	c.428T>G	c.(427-429)gTg>gGg	p.V143G	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.V140G	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	143	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GCCCTCATTCACAGTGACATC	0.468000													18	16					0	0	0.008871	0	0
MTMR4	9110	broad.mit.edu	37	17	56573598	56573598	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:56573598G>A	ENST00000323456.5	-	16	2029	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N	MTMR4_ENST00000579925.1_Silent_p.N578N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	635						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGACAGTGGTTATTCAGGT	0.527000													23	36					0	0	0.001882	0	0
TAP1	6890	broad.mit.edu	37	6	32816878	32816878	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:32816878C>T	ENST00000354258.4	-	6	1607	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TAP1_ENST00000425148.2_Silent_p.L221L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	482	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TTCCCACTTTCAGCAGCATAC	0.478000													7	11					0	0	0.003080	0	0
PDZD4	57595	broad.mit.edu	37	X	153069993	153069993	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:153069993G>A	ENST00000164640.4	-	8	1316	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PDZD4_ENST00000544474.1_Silent_p.L266L|PDZD4_ENST00000393758.2_Silent_p.L300L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	375						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAGAGGAGGCCCAGCT	0.662000													26	7					0	0	0.006320	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256351	15256351	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:15256351G>A	ENST00000378116.4	-	8	1242	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	412						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAGCATGGGGGTGTGCAGGT	0.587000													22	63					0	0	0.002780	0	0
GRAMD3	65983	broad.mit.edu	37	5	125801181	125801181	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:125801181C>T	ENST00000542322.1	+	2	577	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GRAMD3_ENST00000511134.1_Silent_p.S33S|GRAMD3_ENST00000543198.1_Silent_p.S49S|GRAMD3_ENST00000544396.1_5'UTR|GRAMD3_ENST00000513040.1_Silent_p.S64S|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000285689.3_Silent_p.S49S|GRAMD3_ENST00000502348.1_5'UTR|RP11-517I3.1_ENST00000512779.1_RNA|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000515200.1_Silent_p.S49S	NM_001146321.1	NP_001139793.1	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	304										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CAGCCCAATCCCCTACCCCAT	0.493000													20	47					0	0	0.002299	0	0
SCN7A	6332	broad.mit.edu	37	2	167289231	167289231	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:167289231G>A	ENST00000409855.1	-	15	2315	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	730					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGAACTAAATGAGCTCACCAA	0.328000													3	11					0	0	0.004672	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595631	44595631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:44595631G>A	ENST00000245121.5	+	9	844	c.650G>A	c.(649-651)gGa>gAa	p.G217E	KATNAL2_ENST00000356157.7_Missense_Mutation_p.G289E|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	289						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CCCTGGAAAGGACTACTGCTG	0.463000													25	55					0	0	0.007291	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469563	21469563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:21469563G>A	ENST00000298681.4	+	4	912	c.755G>A	c.(754-756)gGa>gAa	p.G252E	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	252						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GACTCTGAAGGAGGGCGGGGC	0.567000													36	80					0	0	0.006230	0	0
ZEB2	9839	broad.mit.edu	37	2	145157133	145157133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:145157133G>A	ENST00000558170.2	-	8	2805	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q541*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q517*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q541*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	541						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTCAAGCTCTGGAGGCAAGCT	0.393000													19	49					0	0	0.001523	0	0
F13A1	2162	broad.mit.edu	37	6	6225023	6225023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:6225023G>A	ENST00000264870.3	-	7	1134	c.869C>T	c.(868-870)cCa>cTa	p.P290L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	290					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAGGCCGATGGGGGGACGCC	0.502000													37	45					0	0	0.006999	0	0
APC	324	broad.mit.edu	37	5	112174490	112174490	+	Nonsense_Mutation	SNP	C	C	T	rs137854571		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:112174490C>T	ENST00000457016.1	+	16	3579	c.3199C>T	c.(3199-3201)Caa>Taa	p.Q1067*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1067*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1067*			P25054	APC_HUMAN	adenomatous polyposis coli	1067	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1067*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAGCAAAGACAATCAAGGAA	0.388000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			11	16					0	0	0.008291	0	0
IGSF1	3547	broad.mit.edu	37	X	130409651	130409651	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:130409651G>A	ENST00000370904.1	-	22	3868	c.2958C>T	c.(2956-2958)gtC>gtT	p.V986V	IGSF1_ENST00000370903.3_Silent_p.V1000V|IGSF1_ENST00000370910.1_Silent_p.V986V|IGSF1_ENST00000361420.3_Silent_p.V995V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	995	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTACTCCATGGACCGGCCCTC	0.512000													40	15					0	0	0.008740	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458474	101458474	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:101458474C>T	ENST00000370489.4	+	10	1372	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	398						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CCAGCCAGGCCTCACTCAATG	0.507000													19	40					0	0	0.001523	0	0
PPP3CB	5532	broad.mit.edu	37	10	75204540	75204540	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:75204540G>A	ENST00000360663.5	-	12	1420	c.1309C>T	c.(1309-1311)Ccc>Tcc	p.P437S	PPP3CB_ENST00000394829.2_Missense_Mutation_p.P438S|PPP3CB_ENST00000544628.1_Missense_Mutation_p.P65S|PPP3CB_ENST00000342558.3_Missense_Mutation_p.P437S|PPP3CB_ENST00000394822.2_Missense_Mutation_p.P455S|PPP3CB_ENST00000545874.1_Missense_Mutation_p.P352S|PPP3CB_ENST00000394828.2_Missense_Mutation_p.P438S			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	437										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATCCCTGTGGGAGTCAGGCCC	0.463000													14	16					0	0	0.004007	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933929	73933929	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:73933929G>A	ENST00000476977.1	+	6	2487	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A266T|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.A266T|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A298T			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	266						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A266T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCCAACCACGCCATCCGAGA	0.697000													20	65					0	0	0.008871	0	0
OLFM3	118427	broad.mit.edu	37	1	102269975	102269975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:102269975G>A	ENST00000370103.4	-	6	1409	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S419F	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	419	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTGGAATAGGAATAATACAC	0.448000													13	23					0	0	0.001855	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423361	107423361	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:107423361C>T	ENST00000409382.3	-	6	1973	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E455K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	455					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E455K(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGATATATTCATACACGTGC	0.502000													15	28					0	0	0.003163	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202707	71202707	+	Silent	SNP	G	G	A	rs143470273		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:71202707G>A	ENST00000554752.2	-	9	1883	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000555993.2_Silent_p.T628T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	628					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATTCTGATGGGGTACTTAAAC	0.473000													13	29					0	0	0.002450	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459369	92459369	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:92459369C>T	ENST00000318445.6	+	2	541	c.327C>T	c.(325-327)atC>atT	p.I109I	SLCO3A1_ENST00000424469.2_Silent_p.I109I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	109					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCGCCTGATCGGCTGCGGCG	0.682000													11	9					0	0	0.000978	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785272	37785272	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:37785272G>A	ENST00000314103.4	+	12	1303	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	384					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAATTCCTTTGAAAGAGAAGC	0.493000													26	41					0	0	0.003954	0	0
LAMA4	3910	broad.mit.edu	37	6	112476150	112476150	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:112476150C>T	ENST00000230538.7	-	16	2357		c.e16-1		LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Splice_Site|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACTCACCGCCTACAAAGGAA	0.388000													21	48					0	0	0.008871	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													18	66					0	0	0.007413	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770039	15770039	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:15770039C>T	ENST00000221307.7	+	13	1455	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F3_ENST00000586182.1_Silent_p.I469I|CYP4F3_ENST00000591058.1_Silent_p.I469I|CYP4F3_ENST00000585846.1_Silent_p.I469I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	469					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGAACTGCATCGGGCAGGCGT	0.672000													6	16					0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168106586	168106586	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:168106586A>C	ENST00000409195.1	+	9	8773	c.8684A>C	c.(8683-8685)gAa>gCa	p.E2895A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2673A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2895A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2720					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						AGTCTGCAGGAAGAAAAATGT	0.363000													14	16					0	0	0.002450	0	0
HAP1	9001	broad.mit.edu	37	17	39881132	39881132	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:39881132C>T	ENST00000393939.2	-	10	1615	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	HAP1_ENST00000347901.4_Missense_Mutation_p.E561K|HAP1_ENST00000341193.5_Missense_Mutation_p.E544K|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.E613K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	613	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCGCTGGCCTCCAGGGCTGAT	0.607000													59	135					0	0	0.003610	0	0
OR2A25	392138	broad.mit.edu	37	7	143772113	143772113	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:143772113G>A	ENST00000408898.2	+	1	839	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGAGCCCCAAGGAGCAGAAGA	0.463000													168	149					0	0	0.003610	0	0
MYOCD	93649	broad.mit.edu	37	17	12656112	12656112	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12656112G>A	ENST00000425538.1	+	10	1707	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	MYOCD_ENST00000395988.1_Missense_Mutation_p.G407R|MYOCD_ENST00000343344.4_Missense_Mutation_p.G503R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	503	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCCTGAATGGGGGCTCTGT	0.582000													11	21					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9058555	9058555	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9058555G>A	ENST00000397910.4	-	3	29094	c.28891C>T	c.(28891-28893)Cct>Tct	p.P9631S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9633	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						GACTGAGCAGGGCCAGGAATG	0.507000													5	28					0	0	0.000602	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661574	113661574	+	RNA	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:113661574G>T	ENST00000393544.2	+	0	1622																											CATTCCTTTAGTTTAGAGCTG	0.517000													20	23					1.64113e-05	2.16708e-05	0.001523	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19685262	19685262	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:19685262C>T	ENST00000284885.3	-	18	2198	c.2165_splice	c.e18+1	p.G722_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	722	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATTACTTACCCTAGTCCCAG	0.353000													19	47					0	0	0.006122	0	0
DHCR7	1717	broad.mit.edu	37	11	71146730	71146730	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:71146730C>T	ENST00000355527.3	-	9	1395	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	DHCR7_ENST00000407721.2_Silent_p.R373R	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	373					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CCTTGGGCTTCCTGCCCCAGA	0.652000									Smith-Lemli-Opitz syndrome				16	33					0	0	0.001523	0	0
PCLO	27445	broad.mit.edu	37	7	82579600	82579600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82579600C>T	ENST00000423517.2	-	6	10641	c.10304G>A	c.(10303-10305)cGa>cAa	p.R3435Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R3435Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R155Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3366					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						TTTAAAACTTCGGGGATCATC	0.423000													40	42					0	0	0.006999	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105950416	105950416	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:105950416C>T	ENST00000278618.4	+	2	628	c.406C>T	c.(406-408)Cca>Tca	p.P136S		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	136				PGRGSI -> FQVVVQF (in Ref. 4; AAG49439).	macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GACTAGTTTTCCAGGTAACGT	0.403000													13	44					0	0	0.001855	0	0
C22orf23	84645	broad.mit.edu	37	22	38340481	38340481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:38340481C>T	ENST00000249079.2	-	6	781	c.525G>A	c.(523-525)atG>atA	p.M175I	C22orf23_ENST00000403026.1_Missense_Mutation_p.M175I|C22orf23_ENST00000403305.1_Missense_Mutation_p.M175I			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	175										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCAGGGCCTCCATGTCAGCCA	0.572000													28	50					0	0	0.005443	0	0
NRXN2	9379	broad.mit.edu	37	11	64390505	64390505	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64390505C>T	ENST00000265459.6	-	21	4354	c.3893G>A	c.(3892-3894)gGg>gAg	p.G1298E	NRXN2_ENST00000409571.1_Missense_Mutation_p.G1291E|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1298E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1228E|NRXN2_ENST00000301894.2_Missense_Mutation_p.G252E	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1298	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCCCGGCCCCCGATCTTGAT	0.662000													8	8					0	0	0.003080	0	0
ADAR	103	broad.mit.edu	37	1	154574656	154574656	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154574656C>T	ENST00000368474.4	-	2	661	c.462G>A	c.(460-462)aaG>aaA	p.K154K	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.K197K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	154					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTGGTGGCCTTCCCTTCCC	0.463000													45	56					0	0	0.002852	0	0
LRP1B	53353	broad.mit.edu	37	2	141739771	141739771	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:141739771C>T	ENST00000389484.3	-	18	3816	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	949	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCGTCTTCCCTGTCACAC	0.438000										TSP Lung(27;0.18)			11	23					0	0	0.008291	0	0
C8G	733	broad.mit.edu	37	9	139840445	139840445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139840445C>T	ENST00000224181.3	+	3	400	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	114					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CCGCTTCCTGCTTCAAGGTGA	0.677000													4	4					0	0	0.000602	0	0
HPD	3242	broad.mit.edu	37	12	122295239	122295239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:122295239C>T	ENST00000543163.1	-	5	521	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	HPD_ENST00000289004.4_Missense_Mutation_p.G65R	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	65					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTCACCTTCCCTTGTTTGATT	0.542000													34	69					0	0	0.004289	0	0
ZNF662	389114	broad.mit.edu	37	3	42956042	42956042	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:42956042C>T	ENST00000541208.1	+	5	846	c.477C>T	c.(475-477)gtC>gtT	p.V159V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Silent_p.V159V|ZNF662_ENST00000328199.6_Silent_p.V185V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AAGTGATTGTCAAGGATGAGA	0.383000													12	20					0	0	0.000978	0	0
FAM24B	196792	broad.mit.edu	37	10	124608939	124608939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:124608939C>T	ENST00000368898.3	-	4	399	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.E37K	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	37						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GCCACAGCTTCAGGTTCCTTT	0.498000													20	45					0	0	0.002780	0	0
PBK	55872	broad.mit.edu	37	8	27668612	27668612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:27668612C>T	ENST00000301905.4	-	7	1098	c.635G>A	c.(634-636)tGg>tAg	p.W212*	PBK_ENST00000522944.1_Nonsense_Mutation_p.W223*|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	212	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTTGGGTTTCCATGGCTCTGT	0.448000													12	26					0	0	0.001368	0	0
IL17B	27190	broad.mit.edu	37	5	148753990	148753990	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:148753990G>A	ENST00000261796.3	-	3	535	c.485C>T	c.(484-486)cCt>cTt	p.P162L	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	162					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGGCAAGGCCCTGTGCG	0.682000													26	47					0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38863945	38863945	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:38863945C>T	ENST00000359357.3	+	58	8487	c.8233C>T	c.(8233-8235)Cca>Tca	p.P2745S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2962S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2709S					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						GATGCCAGAACCAACTGGTGA	0.388000													19	40					0	0	0.008871	0	0
XIRP2	129446	broad.mit.edu	37	2	168100167	168100167	+	Silent	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:168100167A>G	ENST00000409195.1	+	9	2354	c.2265A>G	c.(2263-2265)aaA>aaG	p.K755K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K533K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K755K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	580					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						TGGAAATTAAAACTGTTCACA	0.353000													15	14					0	0	0.004007	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419198	37419198	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:37419198C>T	ENST00000374660.1	+	3	333	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ANKRD30A_ENST00000602533.1_Silent_p.L78L|ANKRD30A_ENST00000361713.1_Silent_p.L78L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L78L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATATAAATCTCGTAGATGTGT	0.423000													10	13					0	0	0.000978	0	0
NPSR1	387129	broad.mit.edu	37	7	34867127	34867127	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:34867127G>T	ENST00000360581.1	+	5	721	c.593G>T	c.(592-594)tGg>tTg	p.W198L	NPSR1_ENST00000381542.1_Missense_Mutation_p.W132L|NPSR1_ENST00000531252.1_Missense_Mutation_p.W187L|NPSR1_ENST00000381539.3_Missense_Mutation_p.W198L|NPSR1_ENST00000359791.1_Missense_Mutation_p.W198L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	198						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTGCAGTGCTGGGCCCTGTGG	0.537000													27	30					2.79863e-10	3.71759e-10	0.004656	1	0
FLAD1	80308	broad.mit.edu	37	1	154962690	154962690	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154962690C>T	ENST00000368433.1	+	4	1664	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	FLAD1_ENST00000292180.3_Missense_Mutation_p.P441S|FLAD1_ENST00000315144.10_Missense_Mutation_p.P344S|FLAD1_ENST00000368432.1_Missense_Mutation_p.P344S|FLAD1_ENST00000405236.2_Silent_p.P292P|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Silent_p.P124P			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	441	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCATCTCCCCTTTCCCTGA	0.537000													71	123					0	0	0.003610	0	0
OR4N4	283694	broad.mit.edu	37	15	22382814	22382814	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:22382814C>T	ENST00000328795.4	+	1	433	c.342C>T	c.(340-342)ctC>ctT	p.L114L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	114					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)		AGGGATTACTCCTTGTTGTGA	0.507000													24	66					0	0	0.001786	0	0
RGS9	8787	broad.mit.edu	37	17	63173904	63173904	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:63173904G>A	ENST00000449996.3	+	9	709	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RGS9_ENST00000262406.9_Missense_Mutation_p.E213K|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.E213K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	213					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAATCCGAATGAAGTCAAGGT	0.493000													26	65					0	0	0.005443	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35826156C>T	ENST00000423537.2	-	2	272	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	48					0	0	0.003954	0	0
THSD7B	80731	broad.mit.edu	37	2	138208522	138208522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:138208522C>T	ENST00000409968.1	+	15	3245	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R1023*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R992*					thrombospondin, type I, domain containing 7B									p.R1023*(1)		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)		AGTGAGAATTCGATCCAAATG	0.408000													12	19					0	0	0.001855	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149558	56149558	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:56149558G>A	ENST00000394555.2	-	2	453	c.18C>T	c.(16-18)ttC>ttT	p.F6F	EFEMP1_ENST00000355426.3_Silent_p.F6F|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000497698.1_5'UTR|EFEMP1_ENST00000394554.1_Silent_p.F6F	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	6					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATAGTTAGGAAAAGGGCTT	0.428000													43	58					0	0	0.002522	0	0
SCN10A	6336	broad.mit.edu	37	3	38743483	38743483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:38743483C>T	ENST00000449082.2	-	26	4503	c.4504G>A	c.(4504-4506)Gaa>Aaa	p.E1502K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1502					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCTTTTCTTCACTTTGGTCA	0.448000													16	35					0	0	0.004990	0	0
DUSP27	92235	broad.mit.edu	37	1	167097296	167097296	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:167097296C>T	ENST00000361200.2	+	6	3094	c.2928C>T	c.(2926-2928)tcC>tcT	p.S976S	DUSP27_ENST00000443333.1_Silent_p.S976S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.S976S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	976	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTAAATCCTCCAGTTACAAGT	0.498000													12	44					0	0	0.002450	0	0
ING1	3621	broad.mit.edu	37	13	111368079	111368079	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:111368079C>T	ENST00000375774.3	+	1	751	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	97					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATCGGCGATTCCCATAGGCGG	0.706000													7	4					0	0	0.004482	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456594	5456594	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:5456594C>T	ENST00000222033.4	+	1	1169	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	364						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTTTGACTCCACCACCTACA	0.652000													36	38					0	0	0.004289	0	0
VAT1L	57687	broad.mit.edu	37	16	77850830	77850830	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:77850830C>T	ENST00000302536.2	+	2	399	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	82							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GATTAAACTTCATTGACTTGA	0.423000													15	20					0	0	0.004007	0	0
FAM129A	116496	broad.mit.edu	37	1	184764806	184764806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:184764806C>T	ENST00000367511.3	-	14	2285	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	698	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTGGCTCTTCCTGGGCGGGT	0.572000													20	30					0	0	0.007413	0	0
MYCT1	80177	broad.mit.edu	37	6	153042964	153042964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:153042964G>A	ENST00000367245.5	+	2	292	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	95						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTCTGTCTCGAAGAAGAAGA	0.478000													34	46					0	0	0.003271	0	0
PCSK5	5125	broad.mit.edu	37	9	78547381	78547381	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:78547381C>T	ENST00000545128.1	+	2	817	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PCSK5_ENST00000376752.4_Silent_p.F93F|PCSK5_ENST00000376767.3_Silent_p.F93F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	93					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						CCCACAGTTTCATTTCAATGG	0.478000													20	26					0	0	0.001882	0	0
OR52B4	143496	broad.mit.edu	37	11	4389346	4389346	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:4389346G>A	ENST00000408920.2	-	1	270	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGTACATGGGTTCATGGA	0.517000													8	17					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3261761C>T	ENST00000217939.6	-	2	268	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					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)				TGCAGTGGACCTCGCTGGGGA	0.617000													9	6					0	0	0.008291	0	0
NCAPG2	54892	broad.mit.edu	37	7	158443603	158443603	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:158443603G>A	ENST00000409339.3	-	24	3109	c.2996C>T	c.(2995-2997)aCa>aTa	p.T999I	NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000356309.3_Missense_Mutation_p.T999I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T999I|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T999I			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	999					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGGGTGTCTGTGTGCCGAGA	0.458000													55	54					0	0	0.003610	0	0
IFIT3	3437	broad.mit.edu	37	10	91099111	91099111	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:91099111C>T	ENST00000371818.4	+	2	879	c.699C>T	c.(697-699)gcC>gcT	p.A233A	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Silent_p.A233A|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	233					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TTGAAGAAGCCTTGGAAAAGT	0.443000													32	36					0	0	0.002096	0	0
DPYD	1806	broad.mit.edu	37	1	98164978	98164978	+	Silent	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:98164978A>T	ENST00000370192.3	-	6	709	c.609T>A	c.(607-609)gcT>gcA	p.A203A	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	203					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAAAAAGGAAGCACAACTTA	0.393000													14	37					0	0	0.002450	0	0
GPBP1	65056	broad.mit.edu	37	5	56557063	56557063	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:56557063C>T	ENST00000424459.3	+	12	2551	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	GPBP1_ENST00000511209.1_Missense_Mutation_p.P398L|GPBP1_ENST00000454432.2_Missense_Mutation_p.P426L|GPBP1_ENST00000514387.2_Missense_Mutation_p.P235L|GPBP1_ENST00000264779.6_Missense_Mutation_p.P413L|GPBP1_ENST00000506184.2_Missense_Mutation_p.P406L|GPBP1_ENST00000538707.1_Missense_Mutation_p.P413L	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ACATGTGCTCCCTTAACTGAG	0.358000													39	82					0	0	0.002852	0	0
HECW1	23072	broad.mit.edu	37	7	43503335	43503335	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:43503335C>T	ENST00000395891.1	+	14	3333	c.2728C>T	c.(2728-2730)Cca>Tca	p.P910S	HECW1_ENST00000453890.1_Missense_Mutation_p.P876S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	910					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGAGCAAGCCCCAGCAGGAGG	0.527000													56	35					0	0	0.003610	0	0
IKBKE	9641	broad.mit.edu	37	1	206653816	206653816	+	Missense_Mutation	SNP	G	G	A	rs149600695		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:206653816G>A	ENST00000367120.3	+	13	1740	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	IKBKE_ENST00000537984.1_Missense_Mutation_p.R371Q|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	456	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ACATGCAGACGGACTCTGGAA	0.622000													10	26					0	0	0.001368	0	0
NR1D2	9975	broad.mit.edu	37	3	24006538	24006538	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:24006538C>T	ENST00000312521.4	+	6	1536	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	406					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S406L(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GAAGAATTTTCGATGAGCTTC	0.403000													43	54					0	0	0.003610	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888049	26888049	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:26888049G>A	ENST00000374168.2	+	17	1639	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	RPS6KA1_ENST00000374162.2_Silent_p.G403G|RPS6KA1_ENST00000531382.1_Silent_p.G504G|RPS6KA1_ENST00000374166.4_Silent_p.G484G|RPS6KA1_ENST00000530003.1_Silent_p.G479G|RPS6KA1_ENST00000526792.1_Silent_p.G403G	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	495	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGCGGGGTGGGGAGCTGCTGG	0.567000													59	87					0	0	0.003610	0	0
UNC13B	10497	broad.mit.edu	37	9	35390690	35390690	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35390690G>A	ENST00000378495.3	+	25	3262	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	UNC13B_ENST00000378496.4_Missense_Mutation_p.D1014N|UNC13B_ENST00000396787.1_Missense_Mutation_p.D1026N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1014	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTGCCCAAGACATGAAATA	0.483000													17	48					0	0	0.004990	0	0
NPHP4	261734	broad.mit.edu	37	1	5950972	5950972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:5950972C>T	ENST00000378156.4	-	17	2525	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	754			G -> R (in NPHP4; affects interaction with RPGRIP1L).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGTCTCCGTCCCAGACG	0.637000													8	9					0	0	0.003080	0	0
LIM2	3982	broad.mit.edu	37	19	51890426	51890426	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51890426C>T	ENST00000221973.3	-	2	314	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			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)		ctctttgagccgcagagttct	0.622000													16	20					0	0	0.004007	0	0
MLIP	90523	broad.mit.edu	37	6	54025189	54025189	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:54025189G>A	ENST00000514921.1	+	6	2394	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Missense_Mutation_p.E772K|MLIP_ENST00000370877.2_Missense_Mutation_p.E161K|MLIP_ENST00000274897.5_Missense_Mutation_p.E237K|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	237						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGCCAAGACTGAAAGTGTCTC	0.393000													3	5					0	0	0.004672	0	0
NUP98	4928	broad.mit.edu	37	11	3723826	3723826	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:3723826G>A	ENST00000324932.7	-	23	3799	c.3379C>T	c.(3379-3381)Cgt>Tgt	p.R1127C	NUP98_ENST00000359171.4_Missense_Mutation_p.R1127C|NUP98_ENST00000355260.3_Missense_Mutation_p.R1127C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1144					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAACCAACACGAAATGAGCGT	0.483000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								26	28					0	0	0.003954	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486220	17486220	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:17486220G>A	ENST00000541323.1	+	5	1175	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PDGFRL_ENST00000398074.3_Missense_Mutation_p.V244I|PDGFRL_ENST00000251630.6_Missense_Mutation_p.V244I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	244						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CCAGGGTGTGGTTTACTGCAG	0.562000													31	43					0	0	0.002445	0	0
VWA3A	146177	broad.mit.edu	37	16	22122279	22122279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:22122279C>T	ENST00000389398.5	+	8	749	c.653C>T	c.(652-654)tCc>tTc	p.S218F	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	218						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AATGCCGGGTCCCTCTGGCCA	0.552000													5	7					0	0	0.001168	0	0
FERMT1	55612	broad.mit.edu	37	20	6068451	6068451	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:6068451C>T	ENST00000217289.4	-	11	2132	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.M191I	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	448	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACATTTCATTCATACCATCGG	0.393000													21	63					0	0	0.002780	0	0
ABL1	25	broad.mit.edu	37	9	133759803	133759803	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:133759803C>T	ENST00000318560.5	+	11	2507	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	709					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGTGGCAGCTCCAGCAAGCGC	0.682000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								18	32					0	0	0.004990	0	0
H2AFY	9555	broad.mit.edu	37	5	134705283	134705283	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:134705283C>T	ENST00000511689.1	-	4	883	c.290G>A	c.(289-291)gGa>gAa	p.G97E	H2AFY_ENST00000304332.4_Missense_Mutation_p.G97E|H2AFY_ENST00000312469.4_Missense_Mutation_p.G97E|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.G97E	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	97	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATGGTGACTCCTTTTAGCAG	0.512000													33	46					0	0	0.003271	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331819	68331819	+	Silent	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:68331819T>C	ENST00000393799.2	+	9	1161	c.894T>C	c.(892-894)gcT>gcC	p.A298A	PPP6R3_ENST00000529710.1_Silent_p.A298A|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Silent_p.A298A|PPP6R3_ENST00000524904.1_Silent_p.A298A|PPP6R3_ENST00000265636.5_Silent_p.A298A|PPP6R3_ENST00000524845.1_Silent_p.A298A|PPP6R3_ENST00000393801.3_Silent_p.A298A|PPP6R3_ENST00000527403.2_Silent_p.A298A|PPP6R3_ENST00000265637.4_Silent_p.A298A			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	298					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCCATTCAGCTTGTTCAGTAA	0.413000													59	66					0	0	0.003610	0	0
GRID1	2894	broad.mit.edu	37	10	87482774	87482774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:87482774C>T	ENST00000327946.7	-	12	2068	c.1983G>A	c.(1981-1983)atG>atA	p.M661I	GRID1_ENST00000536331.1_Missense_Mutation_p.M232I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	661						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGGGTTGTCCATCCTGGACA	0.537000										Multiple Myeloma(13;0.14)			10	26					0	0	0.006214	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975946	7975946	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:7975946G>A	ENST00000545011.1	+	7	948	c.883G>A	c.(883-885)Gag>Aag	p.E295K	MAP2K7_ENST00000397979.3_Missense_Mutation_p.E253K|MAP2K7_ENST00000397981.3_Missense_Mutation_p.E253K|MAP2K7_ENST00000397983.3_Missense_Mutation_p.E269K			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	253	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCTGCTGGACGAGCGGGGCCA	0.637000													23	29					0	0	0.002780	0	0
TFAP4	7023	broad.mit.edu	37	16	4312327	4312327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:4312327G>A	ENST00000204517.6	-	3	680	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	118	Leucine-zipper 1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGGCGCACCTGGATGAAGCGC	0.612000													37	83					0	0	0.008740	0	0
SCARF2	91179	broad.mit.edu	37	22	20779757	20779757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:20779757G>A	ENST00000405555.3	-	11	2576	c.2506C>T	c.(2506-2508)Ccc>Tcc	p.P836S	SCARF2_ENST00000266214.5_Missense_Mutation_p.P841S	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	837	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCTTCCGGGGGGTCTCAGGC	0.756000													4	8					0	0	0.000602	0	0
PTPRR	5801	broad.mit.edu	37	12	71139615	71139615	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:71139615G>A	ENST00000283228.2	-	6	1442	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PTPRR_ENST00000440835.2_Silent_p.P85P|PTPRR_ENST00000549308.1_Silent_p.P85P|PTPRR_ENST00000342084.4_Silent_p.P218P|PTPRR_ENST00000378778.1_Silent_p.P124P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	330					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAAGTCCTATGGGCTTCATTT	0.428000													15	20					0	0	0.004990	0	0
TGM4	7047	broad.mit.edu	37	3	44926890	44926890	+	Silent	SNP	G	G	A	rs143152961		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:44926890G>A	ENST00000296125.4	+	2	161	c.93G>A	c.(91-93)acG>acA	p.T31T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	31					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTTCCAAACGAGCAGTCCTG	0.527000													8	24					0	0	0.003080	0	0
APCDD1	147495	broad.mit.edu	37	18	10471552	10471552	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:10471552T>C	ENST00000355285.4	+	3	622	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L	APCDD1_ENST00000578882.1_Missense_Mutation_p.F90L	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	90					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGGCCCAGAGTTCATCACAAG	0.428000													24	21					0	0	0.006320	0	0
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:57767778G>A	ENST00000371030.2	+	1	1704	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	568						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)					CCGCGGTGGAGGACCTGCCAG	0.711000													5	12					0	0	0.000602	0	0
ATXN3	4287	broad.mit.edu	37	14	92559603	92559603	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:92559603C>T	ENST00000545170.1	-	5	448	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ATXN3_ENST00000340660.6_Missense_Mutation_p.G72E|ATXN3_ENST00000503767.1_Missense_Mutation_p.G112E|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000429774.2_Missense_Mutation_p.G112E|ATXN3_ENST00000393287.5_Missense_Mutation_p.G127E|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Missense_Mutation_p.G127E	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	127	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TACCTGTTTTCCTAATTTTCT	0.313000													4	12					0	0	0.000602	0	0
MXRA5	25878	broad.mit.edu	37	X	3261786	3261786	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3261786G>A	ENST00000217939.6	-	2	243	c.89C>T	c.(88-90)cCt>cTt	p.P30L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	30	LRRNT.					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)				GCAGGCACAAGGATGCGGGCA	0.647000													12	8					0	0	0.001855	0	0
LRRK2	120892	broad.mit.edu	37	12	40631877	40631877	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:40631877C>G	ENST00000298910.7	+	5	601	c.543C>G	c.(541-543)tgC>tgG	p.C181W	LRRK2_ENST00000343742.2_Missense_Mutation_p.C181W	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	181					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACTTGGATGCAAAGCTTTAC	0.333000													19	47					0	0	0.001882	0	0
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5863035G>A	ENST00000329322.5	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.F35F	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458000													17	30					0	0	0.007413	0	0
H2AFY	9555	broad.mit.edu	37	5	134705284	134705284	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:134705284C>T	ENST00000511689.1	-	4	882	c.289G>A	c.(289-291)Gga>Aga	p.G97R	H2AFY_ENST00000304332.4_Missense_Mutation_p.G97R|H2AFY_ENST00000312469.4_Missense_Mutation_p.G97R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.G97R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	97	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGTGACTCCTTTTAGCAGC	0.517000													33	45					0	0	0.003271	0	0
CALN1	83698	broad.mit.edu	37	7	71252847	71252847	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:71252847C>T	ENST00000395275.2	-	7	1087	c.699G>A	c.(697-699)aaG>aaA	p.K233K	CALN1_ENST00000395276.2_Silent_p.K191K|CALN1_ENST00000329008.5_Silent_p.K191K|CALN1_ENST00000412588.1_Silent_p.K233K|CALN1_ENST00000431984.1_Silent_p.K191K|CALN1_ENST00000405452.2_Silent_p.K191K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	191						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATATGAGGCTCTTCCGGACGC	0.562000													23	61					0	0	0.003330	0	0
CNDP1	84735	broad.mit.edu	37	18	72238505	72238505	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:72238505G>A	ENST00000582365.1	+	6	778	c.712_splice	c.e6+1	p.G238_splice	CNDP1_ENST00000358821.3_Splice_Site_p.G281_splice			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	281					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTCTTCTCGGTAATGCCTT	0.423000													34	60					0	0	0.003271	0	0
PLAG1	5324	broad.mit.edu	37	8	57079469	57079469	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:57079469G>A	ENST00000316981.3	-	5	1315	c.836C>T	c.(835-837)tCa>tTa	p.S279L	PLAG1_ENST00000429357.2_Missense_Mutation_p.S279L|PLAG1_ENST00000423799.2_Missense_Mutation_p.S197L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	279	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAATGGCTTTGATAACAGTTC	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								35	67					0	0	0.003271	0	0
AAK1	22848	broad.mit.edu	37	2	69754441	69754441	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:69754441C>T	ENST00000409085.4	-	9	1258	c.882G>A	c.(880-882)ttG>ttA	p.L294L	AAK1_ENST00000406297.3_Silent_p.L294L|AAK1_ENST00000409068.1_Silent_p.L294L	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	294	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGTCTGGTTCCAACATATACC	0.393000													8	11					0	0	0.004482	0	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													5	32					0	0	0.000602	0	0
OR2M5	127059	broad.mit.edu	37	1	248309099	248309099	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:248309099C>T	ENST00000366476.1	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			ATCATCGCTTCCTATGCTCGA	0.423000													46	95					0	0	0.003214	0	0
MDN1	23195	broad.mit.edu	37	6	90405699	90405699	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:90405699G>A	ENST00000369393.3	-	61	9511	c.9396C>T	c.(9394-9396)tcC>tcT	p.S3132S	MDN1_ENST00000428876.1_Silent_p.S3132S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3132					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)		CCTGGAGTTGGGAATCCGTGC	0.512000													34	87					0	0	0.002222	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981864	51981864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51981864G>A	ENST00000451626.1	+	2	151	c.151G>A	c.(151-153)Gga>Aga	p.G51R				A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	51						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTCTCTGGAGGGACCCCTCCT	0.622000													6	29					0	0	0.001168	0	0
ATP2A2	488	broad.mit.edu	37	12	110765358	110765358	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:110765358G>A	ENST00000395494.2	+	7	1113	c.549_splice	c.e7-1	p.G184_splice	ATP2A2_ENST00000539276.2_Splice_Site_p.G211_splice|ATP2A2_ENST00000308664.6_Splice_Site_p.G211_splice			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	211					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTGTCCTAGGGTACAAACAT	0.463000													66	141					0	0	0.003610	0	0
TRAK1	22906	broad.mit.edu	37	3	42243935	42243935	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:42243935G>A	ENST00000327628.5	+	13	1835	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	TRAK1_ENST00000449246.1_Missense_Mutation_p.E405K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E421K|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.E421K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	479	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGAAACGATGAGCGGAGTAA	0.652000													17	33					0	0	0.008871	0	0
EPPK1	83481	broad.mit.edu	37	8	144944110	144944110	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:144944110C>T	ENST00000525985.1	-	2	3383	c.3312G>A	c.(3310-3312)agG>agA	p.R1104R				P58107	EPIPL_HUMAN	epiplakin 1	1104						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGTCTCATCCCTGGGGCACT	0.672000													7	34					0	0	0.003080	0	0
PHRF1	57661	broad.mit.edu	37	11	608886	608886	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:608886G>A	ENST00000264555.5	+	14	3558	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	PHRF1_ENST00000533464.1_Missense_Mutation_p.E1140K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E1142K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E1143K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1144	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGCAGCCACGAGCGGCCAGA	0.677000													10	14					0	0	0.000978	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563733	24563733	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:24563733A>C	ENST00000535378.1	-	17	3060	c.2418T>G	c.(2416-2418)agT>agG	p.S806R	KIAA0319_ENST00000378214.3_Missense_Mutation_p.S815R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S770R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S815R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S815R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	815	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCACCAGGCCACTCTTCCTAG	0.547000													10	20					0	0	0.008291	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43632897	43632897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:43632897C>T	ENST00000431635.2	-	7	860	c.712G>A	c.(712-714)Gag>Aag	p.E238K	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.E183K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	183					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAACCTCCGTTTGCACC	0.423000													45	76					0	0	0.003610	0	0
C11orf85	283129	broad.mit.edu	37	11	64726820	64726820	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64726820G>A	ENST00000530444.1	-	3	268	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	C11orf85_ENST00000301896.5_Missense_Mutation_p.P20S|C11orf85_ENST00000432175.1_Missense_Mutation_p.P20S|C11orf85_ENST00000536065.1_5'UTR			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	20										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TACACATTGGGTCCTGCATGA	0.393000													21	48					0	0	0.003954	0	0
SLK	9748	broad.mit.edu	37	10	105762870	105762870	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:105762870C>T	ENST00000369755.3	+	9	2479	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	SLK_ENST00000335753.4_Missense_Mutation_p.S645L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	645	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCACTGAGTCAAGTAGCACT	0.408000													7	19					0	0	0.001984	0	0
TRIM71	131405	broad.mit.edu	37	3	32932556	32932556	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:32932556C>T	ENST00000383763.4	+	4	1923	c.1860C>T	c.(1858-1860)atC>atT	p.I620I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	620					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCTACATCATTGTCGCCG	0.642000													13	15					0	0	0.001855	0	0
VPS39	23339	broad.mit.edu	37	15	42456603	42456603	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:42456603G>A	ENST00000318006.5	-	19	2141	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	VPS39_ENST00000348544.4_Missense_Mutation_p.S671F	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	671					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAGTAGCTGGAAATCTCCAA	0.517000													18	22					0	0	0.004990	0	0
ZNF646	9726	broad.mit.edu	37	16	31087862	31087862	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:31087862G>A	ENST00000394979.2	+	1	640	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	ZNF646_ENST00000300850.5_Missense_Mutation_p.G73S			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACGAGACTGGCCTTTTCCC	0.627000													20	31					0	0	0.001523	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781567	128781567	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:128781567C>T	ENST00000529694.1	+	2	775	c.399C>T	c.(397-399)ctC>ctT	p.L133L	KCNJ5_ENST00000338350.4_Silent_p.L133L|KCNJ5_ENST00000533599.1_Silent_p.L133L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	133					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L133L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGAAAACCTCAGTGGCTTCG	0.507000													41	53					0	0	0.003214	0	0
CRLF1	9244	broad.mit.edu	37	19	18709614	18709614	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:18709614G>A	ENST00000392386.3	-	3	688	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	165	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.L165L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGTTGGTGTGGAGGAAGGTCT	0.612000													23	60					0	0	0.004656	0	0
UTP6	55813	broad.mit.edu	37	17	30192395	30192395	+	Silent	SNP	G	G	A	rs138066981	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:30192395G>A	ENST00000261708.4	-	18	1763	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	542					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CAGAATCTGCGGATCCAAACT	0.408000													17	39					0	0	0.004990	0	0
CSMD3	114788	broad.mit.edu	37	8	113418828	113418828	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:113418828C>T	ENST00000297405.5	-	35	5978	c.5734G>A	c.(5734-5736)Gga>Aga	p.G1912R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1842R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1872R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1808R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1912	Sushi 10.					integral to membrane|plasma membrane		p.G1872*(1)|p.G1912L(1)|p.G1912*(1)|p.G1872L(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						GCTATGGATCCATGGAGAATA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	37					0	0	0.004990	0	0
CIT	11113	broad.mit.edu	37	12	120159206	120159206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:120159206G>A	ENST00000392521.2	-	29	3695	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	CIT_ENST00000261833.7_Missense_Mutation_p.R1172C|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1172	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGTCAGACGGAAAATGTGA	0.458000													27	57					0	0	0.007291	0	0
SUGP2	10147	broad.mit.edu	37	19	19115220	19115220	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:19115220C>T	ENST00000601879.1	-	7	2983	c.2686G>A	c.(2686-2688)Gac>Aac	p.D896N	SUGP2_ENST00000456085.2_Missense_Mutation_p.D665N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D896N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D910N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D896N			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	896	Asp/Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						tcgtcctcgtcctcctcctcA	0.692000													20	23					0	0	0.008871	0	0
FAM47A	158724	broad.mit.edu	37	X	34148220	34148220	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:34148220C>T	ENST00000346193.3	-	1	2227	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	726										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACGTCAGGTTCATCAGGCTTT	0.418000													41	15					0	0	0.008740	0	0
CXorf67	340602	broad.mit.edu	37	X	51150133	51150133	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:51150133A>T	ENST00000342995.2	+	1	367	c.265A>T	c.(265-267)Ata>Tta	p.I89L						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCTGCCAATCATAGCTGCTGT	0.667000													12	4					0	0	0.004007	0	0
C7	730	broad.mit.edu	37	5	40981531	40981531	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:40981531G>A	ENST00000313164.9	+	18	2747	c.2388G>A	c.(2386-2388)gaG>gaA	p.E796E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	796	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGCATCGGAGTGCGAGGAAG	0.522000													8	8					0	0	0.003080	0	0
EPN2	22905	broad.mit.edu	37	17	19186844	19186844	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:19186844G>A	ENST00000314728.5	+	3	896	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.E138K|EPN2_ENST00000347697.2_Missense_Mutation_p.E138K|EPN2_ENST00000395620.2_Missense_Mutation_p.E138K|EPN2_ENST00000395626.1_Missense_Mutation_p.E138K|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	138	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAAGGACGAGGAACGGTTGAA	0.572000													23	41					0	0	0.002780	0	0
HNF4A	3172	broad.mit.edu	37	20	43052988	43052988	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:43052988C>T	ENST00000443598.2	+	8	1312	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	HNF4A_ENST00000415691.1_Intron|HNF4A_ENST00000316099.3_Intron|HNF4A_ENST00000457232.1_Intron	NM_001030004.2|NM_178850.2	NP_001025175.1|NP_849181.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	0					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			tccttggcttccccactgtgc	0.592000													75	126					0	0	0.003610	0	0
RAVER1	125950	broad.mit.edu	37	19	10428173	10428173	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:10428173C>T	ENST00000293677.6	-	13	2309	c.2228G>A	c.(2227-2229)gGc>gAc	p.G743D	CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.G144D	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGCGTAGTGGCCGCCGAGGCC	0.617000													22	54					0	0	0.003330	0	0
ZNF208	7757	broad.mit.edu	37	19	22156833	22156833	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:22156833G>A	ENST00000397126.4	-	4	1151	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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)				TCTCCAGCATGAATTGCCTTA	0.393000													17	15					0	0	0.007413	0	0
COL4A4	1286	broad.mit.edu	37	2	227963446	227963446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:227963446G>A	ENST00000396625.3	-	19	1375	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P390S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	390	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAGAGACCTGGGGGACCAGGT	0.562000													24	29					0	0	0.006320	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328839	6328839	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:6328839G>A	ENST00000344545.5	+	1	491	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TPD52L3_ENST00000381428.1_Missense_Mutation_p.D82N|TPD52L3_ENST00000314556.3_Missense_Mutation_p.D82N	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	82							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAGCTGGCTTGATGTTCAGGT	0.532000													23	36					0	0	0.002299	0	0
CENPE	1062	broad.mit.edu	37	4	104066293	104066293	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:104066293C>T	ENST00000265148.3	-	32	4860	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1566K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1591					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCTTTTTCCTTAATCATA	0.363000													19	38					0	0	0.006122	0	0
BAGE2	85319	broad.mit.edu	37	21	11039043	11039043	+	RNA	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:11039043C>T	ENST00000470054.1	-	0	1160									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGTCATTTCAGAGTCCATC	0.373000													14	250					0	0	0.003163	0	0
TMEM209	84928	broad.mit.edu	37	7	129825207	129825207	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:129825207C>T	ENST00000397622.2	-	7	898	c.775_splice	c.e7-1	p.G259_splice	TMEM209_ENST00000336804.8_Splice_Site_p.G258_splice|TMEM209_ENST00000473456.1_Splice_Site_p.G259_splice|TMEM209_ENST00000462753.1_Splice_Site_p.G258_splice|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	259						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATCTGGGCTCCCTACAATTGT	0.398000													47	107					0	0	0.003610	0	0
CREB1	1385	broad.mit.edu	37	2	208440042	208440042	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:208440042C>T	ENST00000432329.2	+	7	845	c.594C>T	c.(592-594)acC>acT	p.T198T	CREB1_ENST00000374397.4_Intron|CREB1_ENST00000353267.3_Silent_p.T184T|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000536726.1_Silent_p.T184T|CREB1_ENST00000430624.1_Silent_p.T184T	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	198					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAATGGTACCGATGGGGTAC	0.448000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								35	57					0	0	0.006230	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	37					0	0	0.002445	0	0
MAGI1	9223	broad.mit.edu	37	3	65344738	65344738	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:65344738C>T	ENST00000330909.8	-	24	3807		c.e24+1		MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAGCTACAAACCGTAGTTTGA	0.433000													73	128					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219878243	219878243	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:219878243G>A	ENST00000341552.5	-	23	3927	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L	CCDC108_ENST00000453220.1_Silent_p.L1282L|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.L1282L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1282						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCACCAGGATCTCCCGG	0.592000													12	9					0	0	0.001855	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797421	130797421	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:130797421G>A	ENST00000509018.1	-	19	3046	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	RAPGEF6_ENST00000507093.1_Silent_p.F947F|RAPGEF6_ENST00000296859.6_Silent_p.F947F|RAPGEF6_ENST00000512052.1_Silent_p.F662F|FNIP1_ENST00000514667.1_Silent_p.F997F|RAPGEF6_ENST00000308008.6_Silent_p.F947F|RAPGEF6_ENST00000307984.5_Silent_p.F952F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	947	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACATGGAATTGAAGTTCTTAC	0.313000													9	18					0	0	0.008291	0	0
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:40020150C>T	ENST00000324616.5	+	1	166	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_ENST00000405531.3_Silent_p.V4V|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542000													11	30					0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13727702	13727702	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:13727702G>A	ENST00000265104.4	-	70	12051	c.11947C>T	c.(11947-11949)Ctt>Ttt	p.L3983F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3983					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3983F(1)		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)					GCATTTGGAAGAGGTTCCTCC	0.413000									Kartagener syndrome				11	22					0	0	0.008291	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055737	6055737	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:6055737C>T	ENST00000282924.5	-	13	2331	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D616N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D451N|JAKMIP1_ENST00000409021.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	616	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGAGAATGTCTGCTCCGTTT	0.388000													31	73					0	0	0.002445	0	0
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:131861869G>A	ENST00000286355.5	-	10	4483	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)			11	32					0	0	0.001855	0	0
CDH11	1009	broad.mit.edu	37	16	64984701	64984701	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:64984701G>A	ENST00000394156.3	-	12	2316	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CDH11_ENST00000268603.4_Silent_p.I621I|CDH11_ENST00000566827.1_Silent_p.I495I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	621					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.I621I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAGGATGGCGATCAGGGCGC	0.622000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			16	23					0	0	0.004990	0	0
GPSM1	26086	broad.mit.edu	37	9	139250282	139250282	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139250282C>T	ENST00000440944.1	+	12	1816	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	GPSM1_ENST00000429455.1_Silent_p.T23T|GPSM1_ENST00000392944.1_Silent_p.T23T	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	532					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCGCCCCCACCCTGGAGGACA	0.692000													22	25					0	0	0.003330	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727959	31727959	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31727959C>T	ENST00000493662.2	+	19	1885	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	MSH5_ENST00000534153.4_Missense_Mutation_p.P610L|MSH5_ENST00000431848.2_Missense_Mutation_p.P292L|MSH5_ENST00000375742.3_Missense_Mutation_p.P610L|MSH5_ENST00000395853.1_Missense_Mutation_p.P267L|MSH5_ENST00000375755.3_Missense_Mutation_p.P593L|MSH5_ENST00000375750.3_Missense_Mutation_p.P593L|MSH5_ENST00000375703.3_Missense_Mutation_p.P593L|MSH5_ENST00000375740.3_Missense_Mutation_p.P610L																							ATCACTGGACCCAACTCATCA	0.557000													147	231					0	0	0.003610	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152577	56152577	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:56152577G>A	ENST00000399503.3	+	2	633	c.633_splice	c.e2+1	p.V211_splice	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	211			V -> VIQ (in SRXY6).		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAGGGCCTGTGGTAAGTGGCT	0.438000													11	25					0	0	0.008291	0	0
DUSP7	1849	broad.mit.edu	37	3	52088047	52088047	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:52088047G>A	ENST00000495880.1	-	2	1044	c.861C>T	c.(859-861)caC>caT	p.H287H	DUSP7_ENST00000296483.6_Silent_p.H236H			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	287					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGCCGCCGTGCTCGAAGG	0.567000													55	87					0	0	0.003610	0	0
MIA3	375056	broad.mit.edu	37	1	222791496	222791496	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:222791496G>A	ENST00000344922.5	+	1	69	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	MIA3_ENST00000344507.1_Missense_Mutation_p.R15Q|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.R15Q	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	15					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCGTGCTCCGGCTGCCCTGG	0.721000													39	28					0	0	0.003610	0	0
TELO2	9894	broad.mit.edu	37	16	1544344	1544344	+	Missense_Mutation	SNP	C	C	T	rs146786272	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:1544344C>T	ENST00000262319.6	+	2	341	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	21						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCCTCTCGTCTTCGGAGGAT	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	79					0	0	0.003610	0	0
SLC36A1	206358	broad.mit.edu	37	5	150853259	150853259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:150853259C>T	ENST00000243389.3	+	8	972	c.749C>T	c.(748-750)cCc>cTc	p.P250L	SLC36A1_ENST00000521925.1_Missense_Mutation_p.P250L|SLC36A1_ENST00000520701.1_Missense_Mutation_p.P250L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	250					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	AGCCACCTCCCCTTGGTGGCC	0.453000													84	165					0	0	0.003610	0	0
OR13C3	138803	broad.mit.edu	37	9	107298321	107298321	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:107298321C>T	ENST00000374781.2	-	1	816	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGGCTGAATTCATTTGCAAGA	0.413000													28	42					0	0	0.008361	0	0
ATP13A3	79572	broad.mit.edu	37	3	194176669	194176669	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:194176669C>T	ENST00000439040.1	-	8	1374	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E195K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	195					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)		ACAGCAATTTCATTTACTCCA	0.279000													39	73					0	0	0.003214	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147140	26147140	+	Silent	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:26147140G>T	ENST00000331351.5	+	2	1334	c.942G>T	c.(940-942)ctG>ctT	p.L314L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	314					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTGAGGTGCTGGCCTTCAAAA	0.532000													55	108					1.13205e-32	1.51964e-32	0.003610	1	0
BACE2	25825	broad.mit.edu	37	21	42613773	42613773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:42613773G>A	ENST00000330333.6	+	4	1109	c.646G>A	c.(646-648)Gac>Aac	p.D216N	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.D216N|BACE2_ENST00000328735.6_Missense_Mutation_p.D216N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	216					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACCTTCTTCGACTCCCTGGT	0.577000													62	90					0	0	0.003610	0	0
GLRA1	2741	broad.mit.edu	37	5	151202299	151202299	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:151202299T>C	ENST00000274576.4	-	9	1577	c.1285A>G	c.(1285-1287)Att>Gtt	p.I429V	GLRA1_ENST00000455880.2_Missense_Mutation_p.I437V|GLRA1_ENST00000545569.1_Missense_Mutation_p.I346V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	437					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGTTGAAAATGAGGAAGGCC	0.512000													25	34					0	0	0.002780	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:70885994G>A	ENST00000333538.5	+	5	1499	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCGGTACGAGAACTCGGC	0.587000													40	125					0	0	0.007835	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909555	156909555	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:156909555C>T	ENST00000368194.3	-	37	4920	c.3881G>A	c.(3880-3882)gGg>gAg	p.G1294E	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G670E|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1254E	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1254					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTGCTTGCCCTGGGGAGCC	0.637000													20	37					0	0	0.001882	0	0
C1RL	51279	broad.mit.edu	37	12	7249398	7249398	+	Silent	SNP	C	C	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:7249398C>A	ENST00000266542.4	-	6	1145	c.1053G>T	c.(1051-1053)ctG>ctT	p.L351L	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	351	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTTGGGGCCCAGGGGGATGC	0.617000													17	39					4.7546e-09	6.28766e-09	0.004007	1	0
COL14A1	7373	broad.mit.edu	37	8	121219307	121219307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:121219307C>T	ENST00000297848.3	+	10	1435	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	COL14A1_ENST00000537875.1_Missense_Mutation_p.P389S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.P294S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P389S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	389	Fibronectin type-III 2.				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)			TGTGTATTATCCTACCAGGGG	0.413000													10	32					0	0	0.000978	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178556940	178556940	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:178556940G>A	ENST00000251582.7	-	16	2551	c.2450C>T	c.(2449-2451)aCc>aTc	p.T817I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	817	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACCAGAACGGTGATGGTGCC	0.662000													19	32					0	0	0.001523	0	0
KLHL4	56062	broad.mit.edu	37	X	86890589	86890589	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:86890589G>A	ENST00000373119.4	+	9	1884	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G580E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	580						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						GGACGTGATGGAAGTTCCTGC	0.398000													7	3					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228558444	228558444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:228558444G>A	ENST00000570156.2	+	104	23176	c.23102G>A	c.(23101-23103)cGa>cAa	p.R7701Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.R6744Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R4378Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6744	Protein kinase 2.				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)				CTCCTGGCCCGAAGTCGCTGG	0.632000													36	60					0	0	0.006230	0	0
SRRM2	23524	broad.mit.edu	37	16	2817118	2817118	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2817118C>T	ENST00000301740.8	+	11	7138	c.6589C>T	c.(6589-6591)Ccg>Tcg	p.P2197S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2197	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCGGCCTCCTCCGTCCATGTC	0.572000													27	39					0	0	0.006320	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001672	41001672	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:41001672G>A	ENST00000244565.3	-	3	722	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	UNC5CL_ENST00000373164.1_Missense_Mutation_p.P212S	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	212	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGCCCCCGGCCGCCCCAGG	0.627000													16	22					0	0	0.004990	0	0
MERTK	10461	broad.mit.edu	37	2	112785979	112785979	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:112785979C>T	ENST00000295408.4	+	19	2795	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	MERTK_ENST00000409780.1_Silent_p.T670T|MERTK_ENST00000421804.2_Silent_p.T846T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	846	Protein kinase.				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						ACCGCCCCACCTTTTCAGTAT	0.448000													35	21					0	0	0.002836	0	0
TREML2	79865	broad.mit.edu	37	6	41162267	41162267	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:41162267G>A	ENST00000483722.1	-	3	866	c.681C>T	c.(679-681)tcC>tcT	p.S227S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	227					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TAGTGGAGATGGATTCTGGGC	0.622000													9	26					0	0	0.006214	0	0
GCNT1	2650	broad.mit.edu	37	9	79117502	79117502	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:79117502G>A	ENST00000442371.1	+	3	1144	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	GCNT1_ENST00000444201.2_Missense_Mutation_p.E69K|GCNT1_ENST00000376730.4_Missense_Mutation_p.E69K|GCNT1_ENST00000536223.1_Missense_Mutation_p.E69K	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	69	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGATGTAAATGAAATCCAAAA	0.403000													33	41					0	0	0.002836	0	0
ACTG1	71	broad.mit.edu	37	17	79478514	79478514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:79478514C>T	ENST00000575842.1	-	3	928	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	ACTG1_ENST00000575087.1_Missense_Mutation_p.G168S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G168S|ACTG1_ENST00000573283.1_Missense_Mutation_p.G168S			P63261	ACTG_HUMAN	actin, gamma 1	168					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AGGGCGTAGCCCTCGTAGATG	0.647000													41	62					0	0	0.006999	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004087	126004087	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:126004087G>A	ENST00000299308.3	+	4	1202	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	398						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAGTACCCGATTGAGGACT	0.532000													43	61					0	0	0.008740	0	0
EFCAB14	9813	broad.mit.edu	37	1	47155265	47155265	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:47155265C>T	ENST00000371933.3	-	6	1765	c.789G>A	c.(787-789)ttG>ttA	p.L263L	EFCAB14_ENST00000484461.1_5'UTR|EFCAB14_ENST00000544071.1_Silent_p.L263L|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		GCACCTGTTTCAAATTCTCAC	0.468000													16	35					0	0	0.006122	0	0
SLIT3	6586	broad.mit.edu	37	5	168093559	168093559	+	Missense_Mutation	SNP	C	C	T	rs140403495		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:168093559C>T	ENST00000519560.1	-	36	4891	c.4472G>A	c.(4471-4473)cGc>cAc	p.R1491H	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1498H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1491	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTTGCTGCGGGTGGGCTG	0.602000													16	31					0	0	0.004007	0	0
GCC2	9648	broad.mit.edu	37	2	109087109	109087109	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:109087109G>A	ENST00000309863.6	+	6	2038	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	442					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAACTAAATGAGACATTTTT	0.313000													13	29					0	0	0.001855	0	0
C9orf50	375759	broad.mit.edu	37	9	132377787	132377787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:132377787G>A	ENST00000372478.4	-	4	1057	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	286										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCCCAGTAGCGGAGCGTTGTG	0.647000													20	38					0	0	0.008871	0	0
PKP2	5318	broad.mit.edu	37	12	32945415	32945415	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:32945415C>T	ENST00000340811.4	-	13	2565	c.2457G>A	c.(2455-2457)aaG>aaA	p.K819K	PKP2_ENST00000070846.6_Silent_p.K863K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	863					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATCTGTCTTCTTAAACTGAG	0.423000													28	26					0	0	0.008361	0	0
RNF103	7844	broad.mit.edu	37	2	86831052	86831052	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:86831052A>C	ENST00000237455.4	-	4	2940	c.1972T>G	c.(1972-1974)Tgt>Ggt	p.C658G	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	658					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACAGGGCAACAATGTCGGCCC	0.448000													33	37					0	0	0.002096	0	0
TTC37	9652	broad.mit.edu	37	5	94865928	94865928	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:94865928G>A	ENST00000358746.2	-	11	1055	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	253							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCATCAGTAAGATTTCCTGGA	0.353000													12	20					0	0	0.001368	0	0
C4orf50	389197	broad.mit.edu	37	4	5961201	5961201	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:5961201G>A	ENST00000531445.1	-	7	2200	c.2154C>T	c.(2152-2154)ctC>ctT	p.L718L	C4orf50_ENST00000324058.5_Silent_p.L244L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	244										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGGGCTCAGGAGCTCAGAGG	0.522000													17	64					0	0	0.008871	0	0
MEGF10	84466	broad.mit.edu	37	5	126753435	126753435	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:126753435C>T	ENST00000274473.6	+	11	1503	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	MEGF10_ENST00000418761.2_Silent_p.I412I|MEGF10_ENST00000508365.1_Silent_p.I412I|MEGF10_ENST00000503335.2_Silent_p.I412I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	412	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCAGCAGATCTGCAGCTGCC	0.547000													21	45					0	0	0.001523	0	0
MORC2	22880	broad.mit.edu	37	22	31345759	31345759	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:31345759T>A	ENST00000215862.4	-	6	1473	c.110A>T	c.(109-111)cAg>cTg	p.Q37L	MORC2_ENST00000397641.2_Missense_Mutation_p.Q99L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	99							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATTCCCGTACTGCCCAATCTG	0.463000													52	76					0	0	0.003610	0	0
CWH43	80157	broad.mit.edu	37	4	49009265	49009265	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:49009265A>C	ENST00000226432.4	+	8	1291	c.1108A>C	c.(1108-1110)Aaa>Caa	p.K370Q	CWH43_ENST00000513409.1_Missense_Mutation_p.K343Q	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	370					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						TGGTCCTAAGAAAAACCTTGA	0.308000													15	23					0	0	0.006122	0	0
CCDC37	348807	broad.mit.edu	37	3	126137582	126137582	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:126137582G>A	ENST00000393425.1	+	7	717	c.618G>A	c.(616-618)agG>agA	p.R206R	CCDC37_ENST00000505024.1_Silent_p.R206R|CCDC37_ENST00000352312.1_Silent_p.R205R			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	205										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGTTCGTCAGGGAGAATGACT	0.667000													4	4					0	0	0.000602	0	0
OR2B6	26212	broad.mit.edu	37	6	27925897	27925897	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:27925897G>A	ENST00000244623.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACACTTAGGAACAAGGAGG	0.393000													17	29					0	0	0.004007	0	0
PSG11	5680	broad.mit.edu	37	19	43519355	43519355	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:43519355G>A	ENST00000401740.1	-	4	980	c.877C>T	c.(877-879)Cca>Tca	p.P293S	PSG11_ENST00000306322.7_Missense_Mutation_p.P171S|PSG11_ENST00000320078.7_Missense_Mutation_p.P293S|PSG11_ENST00000403486.1_Missense_Mutation_p.P171S			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	293	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATGCTTTGGAGTAATCTGA	0.468000													56	96					0	0	0.003610	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218305	130218305	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:130218305G>A	ENST00000276211.5	+	5	1017	c.672G>A	c.(670-672)agG>agA	p.R224R	ARHGAP36_ENST00000370921.1_Silent_p.R88R|ARHGAP36_ENST00000370922.1_Silent_p.R212R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATCCAAAAGGAAGATGAGTC	0.478000													21	6					0	0	0.002780	0	0
PCDH20	64881	broad.mit.edu	37	13	61987196	61987196	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:61987196C>T	ENST00000409186.1	-	5	3141	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D346N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	319	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)		AAGTCTTTATCCACAGCCTGG	0.428000													32	50					0	0	0.005524	0	0
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:100395841C>T	ENST00000281806.2	-	3	503	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_ENST00000445970.1_Silent_p.R63R|MCHR2_ENST00000369212.1_Silent_p.R63R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	63			R -> K (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTTTTTCCTGGATCTGA	0.403000													7	30					0	0	0.004482	0	0
DARC	2532	broad.mit.edu	37	1	159175964	159175964	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159175964C>T	ENST00000537147.1	+	3	1578	c.735C>T	c.(733-735)atC>atT	p.I245I	DARC_ENST00000368121.2_Silent_p.I247I|DARC_ENST00000368122.2_Silent_p.I245I			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	245					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGATGAATATCCTGTGGGCCT	0.532000													33	77					0	0	0.002445	0	0
DHX37	57647	broad.mit.edu	37	12	125453415	125453415	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:125453415T>A	ENST00000308736.2	-	9	1389	c.1291A>T	c.(1291-1293)Aag>Tag	p.K431*	DHX37_ENST00000544745.1_Nonsense_Mutation_p.K218*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	431							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGTGTTACCTTGATGACCGGC	0.627000													7	18					0	0	0.006214	0	0
COL13A1	1305	broad.mit.edu	37	10	71707089	71707089	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:71707089G>A	ENST00000356340.3	+	36	2552	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	COL13A1_ENST00000398978.3_Silent_p.K672K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000354547.3_Silent_p.K650K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000398964.3_Silent_p.K643K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398974.3_Silent_p.K660K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	672	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCGGGGACAAGGGAAACCGGG	0.527000													15	34					0	0	0.006122	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522287	124522287	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:124522287G>A	ENST00000408936.3	+	6	921	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G123S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G219S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	247	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGCACCACGGGCAAGCTCAA	0.597000													17	16					0	0	0.007413	0	0
MACF1	23499	broad.mit.edu	37	1	39785394	39785394	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:39785394C>T	ENST00000564288.1	+	31	4781	c.4004C>T	c.(4003-4005)tCc>tTc	p.S1335F	MACF1_ENST00000539005.1_Missense_Mutation_p.S1340F|MACF1_ENST00000567887.1_Missense_Mutation_p.S1372F|MACF1_ENST00000372915.3_Missense_Mutation_p.S1340F|MACF1_ENST00000545844.1_Missense_Mutation_p.S1340F|MACF1_ENST00000361689.2_Missense_Mutation_p.S1340F|MACF1_ENST00000317713.7_Missense_Mutation_p.S1340F|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1340					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)			CAAAAATTTTCCCAGCAGTAC	0.373000													9	16					0	0	0.006214	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438346	204438346	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:204438346G>A	ENST00000367187.3	-	3	1141	c.585C>T	c.(583-585)gtC>gtT	p.V195V	PIK3C2B_ENST00000424712.2_Silent_p.V195V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	195	Interaction with GRB2.				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)			GCAATTGTTCGACCAAAGAGA	0.577000													131	167					0	0	0.003610	0	0
SMO	6608	broad.mit.edu	37	7	128852240	128852240	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:128852240C>T	ENST00000249373.3	+	12	2592	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	771					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTATTCACTCCCGCACCAAC	0.617000			Mis		skin basal cell								52	49					0	0	0.003610	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776753	120776753	+	Silent	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:120776753A>T	ENST00000263713.5	+	2	307	c.93A>T	c.(91-93)acA>acT	p.T31T	EPB41L5_ENST00000452780.1_Silent_p.T31T|EPB41L5_ENST00000443124.1_Silent_p.T31T|EPB41L5_ENST00000331393.4_Silent_p.T31T|EPB41L5_ENST00000443902.2_Silent_p.T31T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	31						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCGCCGCCACACATATTCCTG	0.498000													98	62					0	0	0.003610	0	0
GJD4	219770	broad.mit.edu	37	10	35896519	35896519	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:35896519C>T	ENST00000321660.1	+	2	236	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	26					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCTCTGGTTCGTCCTCACGA	0.572000													7	18					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196825299	196825299	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:196825299G>A	ENST00000312428.6	-	18	2676	c.2576C>T	c.(2575-2577)gCc>gTc	p.A859V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	859	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						ACCAACAATGGCAGACATGGC	0.443000													33	47					0	0	0.002836	0	0
OR51F2	119694	broad.mit.edu	37	11	4842823	4842823	+	Missense_Mutation	SNP	C	C	T	rs113742153	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:4842823C>T	ENST00000322110.5	+	1	273	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	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	70					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)		ACGGAGCCTCCATAAGCCTAT	0.473000													49	72					0	0	0.003610	0	0
ITGA7	3679	broad.mit.edu	37	12	56094719	56094719	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:56094719G>C	ENST00000257880.7	-	4	853	c.634C>G	c.(634-636)Ctc>Gtc	p.L212V	ITGA7_ENST00000452168.2_Missense_Mutation_p.L115V|ITGA7_ENST00000394229.2_Missense_Mutation_p.L212V|ITGA7_ENST00000394230.2_Missense_Mutation_p.L212V|ITGA7_ENST00000347027.6_Missense_Mutation_p.L212V|ITGA7_ENST00000555728.1_Missense_Mutation_p.L212V|ITGA7_ENST00000257879.6_Missense_Mutation_p.L212V|ITGA7_ENST00000553804.1_Missense_Mutation_p.L212V			Q13683	ITA7_HUMAN	integrin, alpha 7	212					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAAGAGGAGGTAGTGGCTA	0.572000													20	27					0	0	0.008871	0	0
ZP4	57829	broad.mit.edu	37	1	238050138	238050138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:238050138C>T	ENST00000366570.4	-	6	930	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	258	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCACCAGTTCATTTTCATAT	0.468000													20	63					0	0	0.008871	0	0
KEL	3792	broad.mit.edu	37	7	142649655	142649655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:142649655G>A	ENST00000355265.2	-	10	1618	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	382			Q -> R (in KEL23 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTGCCTCCTGGAATTGACTG	0.532000													12	54					0	0	0.001368	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724386	7724386	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:7724386G>A	ENST00000303635.7	+	9	1986	c.1779G>A	c.(1777-1779)aaG>aaA	p.K593K	CAMTA1_ENST00000439411.2_Silent_p.K593K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	593					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)		ACTCCAACAAGGACTACACGT	0.677000			T	WWTR1	epitheliod hemangioendothelioma								29	49					0	0	0.006320	0	0
ABR	29	broad.mit.edu	37	17	1012270	1012270	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:1012270C>T	ENST00000291107.2	-	1	70	c.39G>A	c.(37-39)aaG>aaA	p.K13K	ABR_ENST00000574437.1_Intron|ABR_ENST00000544583.2_Intron|ABR_ENST00000302538.5_Intron	NM_001092.4	NP_001083.2	Q12979	ABR_HUMAN	active BCR-related	0					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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCCAGAACCTTGTCCAGCA	0.672000													10	14					0	0	0.001368	0	0
KIAA1430	57587	broad.mit.edu	37	4	186097008	186097008	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:186097008G>A	ENST00000458385.2	-	3	1371	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	KIAA1430_ENST00000502992.1_5'UTR|KIAA1430_ENST00000296775.6_Missense_Mutation_p.P418S|KIAA1430_ENST00000514798.1_Missense_Mutation_p.P418S	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	418										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AACTTTGGGGGATGATCAGCC	0.413000													31	76					0	0	0.007291	0	0
VSX2	338917	broad.mit.edu	37	14	74727431	74727431	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:74727431G>A	ENST00000261980.2	+	5	985	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	299					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CATCTCCCAGGAGGAACTGAG	0.682000													6	10					0	0	0.001984	0	0
STRC	161497	broad.mit.edu	37	15	43893648	43893648	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:43893648C>T	ENST00000450892.2	-	24	4724	c.4647G>A	c.(4645-4647)gtG>gtA	p.V1549V	STRC_ENST00000541030.1_Silent_p.V776V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1549					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCCCCAGTCCACTAGGATCA	0.577000													34	21					0	0	0.007835	0	0
CNBD1	168975	broad.mit.edu	37	8	88365893	88365893	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:88365893G>A	ENST00000518476.1	+	10	1233	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	394										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTATATGGGGAAACTTAAGG	0.323000													15	28					0	0	0.004990	0	0
POLR3A	11128	broad.mit.edu	37	10	79781924	79781924	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:79781924G>A	ENST00000372371.3	-	6	1001	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	288					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATCGTTTAGGAAAATGATTT	0.373000													22	48					0	0	0.002299	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123479417	123479417	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123479417G>A	ENST00000529750.1	+	11	1462	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.E70K|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.E379K|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.E386K	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	379						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GTACGTGAATGAAGTCTTCAA	0.567000													8	4					0	0	0.003080	0	0
ZNF812	729648	broad.mit.edu	37	19	9801162	9801162	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9801162C>T	ENST00000457674.2	-	5	1535	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGCTTTCCCACATTCCT	0.423000													31	22					0	0	0.002096	0	0
BRWD1	54014	broad.mit.edu	37	21	40601257	40601257	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:40601257C>T	ENST00000342449.3	-	26	3184	c.3106G>A	c.(3106-3108)Gac>Aac	p.D1036N	BRWD1_ENST00000380800.3_Missense_Mutation_p.D1036N|BRWD1_ENST00000333229.2_Missense_Mutation_p.D1036N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAAGATTTGTCCATAAGTTTT	0.328000													3	15					0	0	0.004672	0	0
BRIP1	83990	broad.mit.edu	37	17	59885835	59885835	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:59885835C>T	ENST00000259008.2	-	7	1178	c.911G>A	c.(910-912)gGg>gAg	p.G304E	BRIP1_ENST00000577598.1_Missense_Mutation_p.G304E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	304	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CACGTTTTTCCCATCTAGCAA	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					19	42					0	0	0.001523	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229309	90229309	+	RNA	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:90229309C>T	ENST00000390278.2	+	0	149																											GAGTCAGTATCATTTGCTGGG	0.428000													19	30					0	0	0.006122	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17912223	17912223	+	RNA	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:17912223C>T	ENST00000458468.1	+	0	579				MIRLET7C_ENST00000362160.1_RNA	NR_027790.1																						TTCTAGCTTTCCTTGGAGCAC	0.438000													14	17					0	0	0.004007	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531550	74531550	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:74531550C>T	ENST00000553458.1	-	11	1576	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.G480E|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.G210E|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	493						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ATTGGTGTCTCCCCTGAAGGA	0.403000													10	21					0	0	0.008291	0	0
FSTL4	23105	broad.mit.edu	37	5	132535090	132535090	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:132535090G>A	ENST00000265342.7	-	16	2475	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	742						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAGTGAAGGAGCGCTGGA	0.577000													26	54					0	0	0.005443	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236216	26236216	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:26236216C>T	ENST00000354667.4	-	6	742	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E180K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	192					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCTGCATTTCTTGTCTAGAC	0.343000			T	ETV1	prostate								48	31					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126372057	126372057	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:126372057C>T	ENST00000394329.3	+	9	9899	c.9886C>T	c.(9886-9888)Ccc>Tcc	p.P3296S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1594S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3296	Cadherin 31.				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						TGAATATGTGCCCCGTTTTGT	0.413000													12	24					0	0	0.001368	0	0
ZNF746	155061	broad.mit.edu	37	7	149172351	149172351	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:149172351C>T	ENST00000340622.3	-	7	1339	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ZNF746_ENST00000458143.2_Silent_p.R354R			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	353					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACCCATGTCCCTCTCAGGCC	0.672000													9	45					0	0	0.008291	0	0
FAT4	79633	broad.mit.edu	37	4	126370114	126370114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:126370114C>T	ENST00000394329.3	+	9	7956	c.7943C>T	c.(7942-7944)cCt>cTt	p.P2648L	FAT4_ENST00000335110.5_Missense_Mutation_p.P946L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2648	Cadherin 25.				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						ggtttccctcctttctCCTCT	0.368000													10	23					0	0	0.008291	0	0
MYO9A	4649	broad.mit.edu	37	15	72172075	72172075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:72172075G>A	ENST00000356056.5	-	30	6198	c.5726C>T	c.(5725-5727)tCa>tTa	p.S1909L	MYO9A_ENST00000564571.1_Missense_Mutation_p.S1909L|MYO9A_ENST00000424560.1_Missense_Mutation_p.S1980L|MYO9A_ENST00000444904.1_Missense_Mutation_p.S1890L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1909	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			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						CAATGCAGATGAATAAAAGCT	0.353000													32	38					0	0	0.002096	0	0
DNAH7	56171	broad.mit.edu	37	2	196681481	196681481	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:196681481G>A	ENST00000312428.6	-	51	9732	c.9632C>T	c.(9631-9633)tCc>tTc	p.S3211F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3211					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						AAATAGGATGGAAGAATGGAT	0.413000													25	43					0	0	0.003954	0	0
KAT7	11143	broad.mit.edu	37	17	47904136	47904136	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:47904136G>A	ENST00000503935.2	+	14	2277	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.G540E|KAT7_ENST00000509773.1_Missense_Mutation_p.G460E|KAT7_ENST00000259021.4_Missense_Mutation_p.G570E|KAT7_ENST00000454930.2_Missense_Mutation_p.G431E|KAT7_ENST00000435742.2_Missense_Mutation_p.G384E|KAT7_ENST00000510819.1_Missense_Mutation_p.G401E			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	570					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TACTGGAAGGGAAAACACCTA	0.458000													18	37					0	0	0.008871	0	0
RPUSD1	113000	broad.mit.edu	37	16	836243	836243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:836243G>A	ENST00000561734.1	-	5	889	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	RPUSD1_ENST00000007264.2_Missense_Mutation_p.P216S|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.P87S			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	216					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GTGTCCGTGGGGATGCGCAGG	0.667000													44	72					0	0	0.002222	0	0
FAM135B	51059	broad.mit.edu	37	8	139189619	139189619	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:139189619T>G	ENST00000395297.1	-	11	1244	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	358										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)			GGACTGCAAGTTTTTGGTGCT	0.418000										HNSCC(54;0.14)			7	25					0	0	0.004482	0	0
CTNND2	1501	broad.mit.edu	37	5	11364995	11364995	+	Silent	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:11364995G>T	ENST00000304623.8	-	8	1374	c.1185C>A	c.(1183-1185)tcC>tcA	p.S395S	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.S58S|CTNND2_ENST00000359640.2_Silent_p.S395S|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.S304S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	395					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATGAGGCTCGGGAACCAGCTG	0.488000													17	54					4.14922e-12	5.53644e-12	0.004007	1	0
PROM2	150696	broad.mit.edu	37	2	95940436	95940436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:95940436C>T	ENST00000317620.9	+	1	236	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	PROM2_ENST00000542147.1_Missense_Mutation_p.P35S|PROM2_ENST00000403131.2_Missense_Mutation_p.P35S|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.P35S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	35						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTTCCTTGGCCCGGCAGAGCA	0.687000													34	51					0	0	0.002836	0	0
PTPRF	5792	broad.mit.edu	37	1	44071073	44071073	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:44071073C>T	ENST00000359947.4	+	18	3688	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.F464F|PTPRF_ENST00000438120.1_Silent_p.F1107F|PTPRF_ENST00000372413.3_Silent_p.F1107F|PTPRF_ENST00000372414.3_Silent_p.F1116F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1116					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGCCGCTTCGATCTCTCCA	0.662000													21	45					0	0	0.002299	0	0
MYOCD	93649	broad.mit.edu	37	17	12647604	12647604	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12647604G>A	ENST00000425538.1	+	8	1022	c.822G>A	c.(820-822)aaG>aaA	p.K274K	MYOCD_ENST00000395988.1_Silent_p.K178K|MYOCD_ENST00000343344.4_Silent_p.K274K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	274					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGACCAGAAGGCAGAGAAGT	0.547000													18	46					0	0	0.001523	0	0
FAM149A	25854	broad.mit.edu	37	4	187086508	187086508	+	Missense_Mutation	SNP	G	G	A	rs149087810		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:187086508G>A	ENST00000356371.5	+	11	1927	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	FAM149A_ENST00000389354.5_Missense_Mutation_p.V352M|FAM149A_ENST00000227065.4_Missense_Mutation_p.V352M|FAM149A_ENST00000502970.1_Missense_Mutation_p.V352M|FAM149A_ENST00000514153.1_Missense_Mutation_p.V352M|FAM149A_ENST00000503432.1_Missense_Mutation_p.V352M			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	643										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCCGACTGGCGTGGACCACAT	0.552000													18	34					0	0	0.001523	0	0
SZT2	23334	broad.mit.edu	37	1	43913864	43913864	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:43913864G>A	ENST00000562955.1	+	68	9507	c.9507G>A	c.(9505-9507)ggG>ggA	p.G3169G	SZT2_ENST00000372442.1_Silent_p.G2327G|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3226						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGCTCCTGGGAGTTCAGCTG	0.662000													6	13					0	0	0.001168	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226379	50226379	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:50226379C>T	ENST00000284509.6	-	15	1429	c.1287_splice	c.e15-1	p.E430_splice	ATP8B4_ENST00000559829.1_Splice_Site_p.E430_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	430					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCTCTTTTTCCTGTAGGAGA	0.338000													6	10					0	0	0.001168	0	0
CLU	1191	broad.mit.edu	37	8	27462838	27462838	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:27462838C>T	ENST00000316403.10	-	5	837	c.432G>A	c.(430-432)ctG>ctA	p.L144L	CLU_ENST00000546343.1_Silent_p.L155L|CLU_ENST00000405140.3_Silent_p.L144L|CLU_ENST00000560366.1_Silent_p.L196L|CLU_ENST00000523500.1_Silent_p.L144L			P10909	CLUS_HUMAN	clusterin	144					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AGCTCTGGTTCAGGAACTCCT	0.617000													8	21					0	0	0.006214	0	0
ZNF793	390927	broad.mit.edu	37	19	38028516	38028516	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38028516C>T	ENST00000445217.1	+	4	991	c.956C>T	c.(955-957)tCg>tTg	p.S319L	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.S319L|ZNF793_ENST00000587143.1_Missense_Mutation_p.S319L			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCGGGAAATCGTTTGGTGAG	0.453000													9	17					0	0	0.006214	0	0
TNN	63923	broad.mit.edu	37	1	175054544	175054544	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:175054544T>G	ENST00000239462.4	+	6	1351	c.1238T>G	c.(1237-1239)cTg>cGg	p.L413R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	413	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTTCCAGGTCTGCACCCGGGG	0.592000													13	9					0	0	0.001855	0	0
FAM86C1	55199	broad.mit.edu	37	11	71510680	71510680	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:71510680G>A	ENST00000359244.4	+	5	508	c.485G>A	c.(484-486)aGa>aAa	p.R162K	FAM86C1_ENST00000426628.2_Missense_Mutation_p.R155K|FAM86C1_ENST00000528685.1_3'UTR|FAM86C1_ENST00000346333.6_Missense_Mutation_p.R128K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	162										lung(1)	1						AGCACTTGGAGATGGCAAAGC	0.478000													35	71					0	0	0.005524	0	0
KLK14	43847	broad.mit.edu	37	19	51582855	51582855	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51582855C>T	ENST00000391802.1	-	5	583	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	KLK14_ENST00000156499.2_Missense_Mutation_p.R122Q	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	122	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCGTGGGTCCGGGAGTTGTA	0.657000													10	16					0	0	0.001368	0	0
TYR	7299	broad.mit.edu	37	11	89028466	89028466	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:89028466C>T	ENST00000263321.5	+	5	2024	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	508					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCTTCCTGAAGAAAA	0.532000													15	26					0	0	0.002780	0	0
VCAN	1462	broad.mit.edu	37	5	82816889	82816889	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:82816889G>A	ENST00000265077.3	+	7	3329	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G874R|VCAN_ENST00000342785.4_Missense_Mutation_p.G922R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	922	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCATGGAAGGAAGTGCTTT	0.423000													26	61					0	0	0.006320	0	0
NCAPG2	54892	broad.mit.edu	37	7	158443604	158443604	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:158443604T>A	ENST00000409339.3	-	24	3108	c.2995A>T	c.(2995-2997)Aca>Tca	p.T999S	NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000356309.3_Missense_Mutation_p.T999S|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T999S|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T999S			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	999					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GGGGTGTCTGTGTGCCGAGAC	0.463000													55	53					0	0	0.003610	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419559	17419559	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:17419559C>T	ENST00000470360.1	+	12	1845	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	SLC7A2_ENST00000494857.1_Silent_p.F537F|SLC7A2_ENST00000522656.1_Silent_p.F537F|SLC7A2_ENST00000398090.3_Silent_p.F576F|SLC7A2_ENST00000004531.10_Silent_p.F577F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	537					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGTTCTCTTCGTTGCCATCG	0.512000													22	43					0	0	0.001523	0	0
AIM2	9447	broad.mit.edu	37	1	159033362	159033362	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159033362C>T	ENST00000368130.4	-	5	1207	c.919G>A	c.(919-921)Gga>Aga	p.G307R	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	307	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ACCTTATCTCCTTCCTTACAT	0.388000													49	85					0	0	0.003610	0	0
EML4	27436	broad.mit.edu	37	2	42543128	42543128	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:42543128G>A	ENST00000318522.5	+	18	2256	c.1994G>A	c.(1993-1995)aGa>aAa	p.R665K	EML4_ENST00000402711.2_Missense_Mutation_p.R607K|EML4_ENST00000401738.3_Missense_Mutation_p.R676K|EML4_ENST00000453191.2_Intron	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	665					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCAGAAACCAGAGATCTAGTT	0.373000			T	ALK	NSCLC								25	56					0	0	0.005443	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882836	64882836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64882836C>T	ENST00000279263.7	+	8	1105	c.943C>T	c.(943-945)Cga>Tga	p.R315*	TM7SF2_ENST00000540748.1_Nonsense_Mutation_p.R199*|TM7SF2_ENST00000345348.5_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	315					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACACTTTCCGAAAGAATCC	0.567000													37	86					0	0	0.006230	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144833	25144833	+	RNA	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:25144833A>G	ENST00000453498.1	+	0	374																											GGAGCCGCAAATATGGGAACT	0.443000													7	48					0	0	0.008291	0	0
PKD1	5310	broad.mit.edu	37	16	2159610	2159610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2159610G>A	ENST00000262304.4	-	15	5766	c.5558C>T	c.(5557-5559)aCc>aTc	p.T1853I	PKD1_ENST00000423118.1_Missense_Mutation_p.T1853I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1853	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAGACCATGGTGACATGAGG	0.657000													6	9					0	0	0.001168	0	0
OR2T6	254879	broad.mit.edu	37	1	248551479	248551479	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:248551479G>A	ENST00000355728.2	+	1	570	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TGGCCTGTGGGGACAAAACCA	0.517000													18	25					0	0	0.006122	0	0
UCP3	7352	broad.mit.edu	37	11	73716889	73716889	+	Nonsense_Mutation	SNP	G	G	A	rs104894319	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:73716889G>A	ENST00000314032.4	-	4	979	c.427C>T	c.(427-429)Cga>Tga	p.R143*	UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Nonsense_Mutation_p.R143*	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	143					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCCTGAAATCGGACCTTCACC	0.612000													19	24					0	0	0.006122	0	0
LARP1	23367	broad.mit.edu	37	5	154181850	154181850	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:154181850C>T	ENST00000336314.4	+	11	1793	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	667							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACCACACCTCGCGTGCCAAG	0.542000													27	67					0	0	0.007291	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092798	79092798	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:79092798G>A	ENST00000388820.4	-	2	402	c.192C>T	c.(190-192)ccC>ccT	p.P64P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	64					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						GCAGTGCGCGGGGCCACAGCT	0.687000													6	16					0	0	0.001984	0	0
CDC14A	8556	broad.mit.edu	37	1	100964759	100964759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:100964759C>T	ENST00000336454.3	+	15	2051	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	CDC14A_ENST00000361544.6_Nonsense_Mutation_p.R566*|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.R508*|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.R566*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	566					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CACCATCCTCCGACCCTCCTA	0.577000													23	56					0	0	0.003954	0	0
SLMAP	7871	broad.mit.edu	37	3	57898318	57898318	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:57898318G>A	ENST00000295951.3	+	18	3025	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	SLMAP_ENST00000495364.1_Missense_Mutation_p.R154Q|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000449503.2_Missense_Mutation_p.R582Q|SLMAP_ENST00000428312.1_Missense_Mutation_p.R620Q|SLMAP_ENST00000416870.1_Missense_Mutation_p.R113Q|SLMAP_ENST00000494088.1_Missense_Mutation_p.R113Q|SLMAP_ENST00000442599.2_Missense_Mutation_p.R88Q|SLMAP_ENST00000295952.3_Missense_Mutation_p.R603Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	620					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGCGGTGGCGGAAAGCAGCG	0.468000													28	38					0	0	0.006320	0	0
FLT3	2322	broad.mit.edu	37	13	28636206	28636206	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:28636206C>T	ENST00000380982.4	-	3	247	c.165_splice	c.e3-1	p.V56_splice	FLT3_ENST00000537084.1_Splice_Site_p.V56_splice|FLT3_ENST00000241453.7_Splice_Site_p.V56_splice			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	56					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGATACCTACGTTGCA	0.483000			"""Mis, O"""		"""AML, ALL"""								22	47					0	0	0.001882	0	0
SBNO1	55206	broad.mit.edu	37	12	123821031	123821031	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123821031G>A	ENST00000420886.2	-	5	658	c.659C>T	c.(658-660)cCt>cTt	p.P220L	SBNO1_ENST00000267176.4_Missense_Mutation_p.P219L|SBNO1_ENST00000602398.1_Missense_Mutation_p.P220L|SBNO1_ENST00000602750.1_Missense_Mutation_p.P219L	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	220							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ttttACAACAGGAACCTTCTG	0.423000													9	13					0	0	0.004482	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696021	99696021	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:99696021G>A	ENST00000370597.3	-	3	682	c.327C>T	c.(325-327)gaC>gaT	p.D109D	CRTAC1_ENST00000298819.4_Silent_p.D109D|CRTAC1_ENST00000370591.2_Silent_p.D109D	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	109						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCCCCTGCCGGTCCCGCAGCG	0.617000													23	32					0	0	0.001882	0	0
SHE	126669	broad.mit.edu	37	1	154461714	154461714	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154461714G>A	ENST00000304760.2	-	3	923	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	279										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTCCTTGGAACTCCGTC	0.632000													29	49					0	0	0.005443	0	0
ACAA2	10449	broad.mit.edu	37	18	47317897	47317897	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:47317897G>A	ENST00000285093.10	-	7	1301	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	ACAA2_ENST00000587994.1_Silent_p.L273L|ACAA2_ENST00000589432.1_Silent_p.L221L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	276					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						ATTCTTGCCAGTGGTGTGAAG	0.363000													19	39					0	0	0.002780	0	0
MIPOL1	145282	broad.mit.edu	37	14	38016170	38016170	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:38016170G>A	ENST00000327441.7	+	14	1789	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	MIPOL1_ENST00000396294.2_Silent_p.V441V|MIPOL1_ENST00000536774.1_Silent_p.V260V|MIPOL1_ENST00000537471.1_Silent_p.V441V|MIPOL1_ENST00000539062.2_Silent_p.V410V	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	441										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAGGACAGTGATCTGATTGA	0.478000													13	23					0	0	0.002450	0	0
NME3	4832	broad.mit.edu	37	16	1821168	1821168	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:1821168G>A	ENST00000219302.3	-	3	377	c.182C>T	c.(181-183)tCc>tTc	p.S61F	NME3_ENST00000563498.1_5'UTR	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	61					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						CAGCTCCTCGGAGGCCTGCGG	0.721000													9	10					0	0	0.008291	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478301	42478301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:42478301G>A	ENST00000434000.1	-	9	1192	c.910C>T	c.(910-912)Cga>Tga	p.R304*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R382*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	382						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTCTTCTCGTTTCATCCTT	0.438000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	70					0	0	0.006320	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988271	135988271	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:135988271G>A	ENST00000401392.1	-	13	1978	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L	ZRANB3_ENST00000536680.1_Missense_Mutation_p.P589L|ZRANB3_ENST00000264159.6_Missense_Mutation_p.P589L|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	589						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTCTTCCGACGGACTGCAGTG	0.488000													41	66					0	0	0.007835	0	0
FREM2	341640	broad.mit.edu	37	13	39266618	39266618	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:39266618G>A	ENST00000280481.7	+	1	5353	c.5137G>A	c.(5137-5139)Gac>Aac	p.D1713N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1713					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTCAACCTGGACAAAGGCAA	0.418000													23	57					0	0	0.003330	0	0
EXOC6B	23233	broad.mit.edu	37	2	72802653	72802653	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:72802653G>A	ENST00000272427.6	-	7	944	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	EXOC6B_ENST00000410104.1_Silent_p.L272L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	272					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAACATCCAGAATTCCTGAA	0.358000													22	46					0	0	0.003330	0	0
KIF21A	55605	broad.mit.edu	37	12	39726695	39726695	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:39726695C>T	ENST00000395670.3	-	19	3121	c.2702_splice	c.e19+1	p.R901_splice	KIF21A_ENST00000361961.3_Splice_Site_p.R888_splice|KIF21A_ENST00000361418.5_Splice_Site_p.R901_splice|KIF21A_ENST00000541463.2_Splice_Site_p.R865_splice|KIF21A_ENST00000544797.2_Splice_Site_p.R888_splice			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	901					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTATGTAGACCTGTTTCCATT	0.438000													20	29					0	0	0.008871	0	0
FLAD1	80308	broad.mit.edu	37	1	154962691	154962691	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154962691C>T	ENST00000368433.1	+	4	1665	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	FLAD1_ENST00000292180.3_Missense_Mutation_p.P441L|FLAD1_ENST00000315144.10_Missense_Mutation_p.P344L|FLAD1_ENST00000368432.1_Missense_Mutation_p.P344L|FLAD1_ENST00000405236.2_Missense_Mutation_p.L293F|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Missense_Mutation_p.L125F			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	441	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.P441H(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCATCTCCCCTTTCCCTGAG	0.542000													68	126					0	0	0.003610	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													4	33					0	0	0.000248	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963187	96963187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:96963187G>A	ENST00000323853.5	-	11	1368	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	SNRNP200_ENST00000349783.5_Missense_Mutation_p.P431S	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	431						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATCCATCAGGAAGCTGACAG	0.532000													10	38					0	0	0.008291	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475666	140475666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140475666C>T	ENST00000194155.4	+	1	1440	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		431	Cadherin 4.				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)			TTCGGGACACCCAGGCTGAAA	0.562000													41	75					0	0	0.005524	0	0
DDO	8528	broad.mit.edu	37	6	110714252	110714252	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:110714252C>T	ENST00000368924.3	-	5	851	c.836G>A	c.(835-837)aGc>aAc	p.S279N	DDO_ENST00000368923.3_Missense_Mutation_p.S220N|DDO_ENST00000368925.1_Missense_Mutation_p.S251N	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	251					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AATCTCTCTGCTATTTTCTGC	0.552000													69	166					0	0	0.003610	0	0
MRPL23	6150	broad.mit.edu	37	11	1977578	1977578	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:1977578C>T	ENST00000397298.3	+	5	475	c.390C>T	c.(388-390)ctC>ctT	p.L130L	MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Silent_p.L130L	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	130					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACAGCATGCTCGAGGAGGAGA	0.677000													25	18					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179442202	179442202	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:179442202C>T	ENST00000589042.1	-	324	69084	c.68860G>A	c.(68860-68862)Gat>Aat	p.D22954N	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20386N|TTN_ENST00000359218.5_Missense_Mutation_p.D14014N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13889N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D14081N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D21313N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21313	Fibronectin type-III 66.						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)			GTTAGCCCATCTTTTATTGTG	0.363000													15	22					0	0	0.003163	0	0
BNC1	646	broad.mit.edu	37	15	83926322	83926322	+	Missense_Mutation	SNP	G	G	A	rs138921537		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:83926322G>A	ENST00000345382.2	-	5	2942	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	BNC1_ENST00000569704.1_Missense_Mutation_p.R946W|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	953					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGAGCTGCCGGAGGTGCACA	0.507000													54	81					0	0	0.003610	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649675	75649675	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:75649675A>C	ENST00000361470.2	+	1	1630	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	451						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GAGGGTCCTAAGGGTGCAGAA	0.527000													14	10					0	0	0.001855	0	0
VNN1	8876	broad.mit.edu	37	6	133013556	133013556	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:133013556C>T	ENST00000367928.4	-	5	1007	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	332					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTTAAATTCCTTGTTTCCT	0.443000													8	26					0	0	0.003080	0	0
ZNF845	91664	broad.mit.edu	37	19	53856226	53856226	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:53856226G>A	ENST00000458035.1	+	4	2415	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	ZNF845_ENST00000595091.1_Silent_p.R766R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAAACACAGGAGAATTCATA	0.403000													14	16					0	0	0.001855	0	0
SIM1	6492	broad.mit.edu	37	6	100895166	100895166	+	Missense_Mutation	SNP	C	C	T	rs41285857	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:100895166C>T	ENST00000369208.3	-	9	1758	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	SIM1_ENST00000262901.4_Missense_Mutation_p.V326I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	326	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGACGCTGACGATACAGTGT	0.622000													12	21					0	0	0.000978	0	0
HYDIN	54768	broad.mit.edu	37	16	70926365	70926365	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:70926365T>G	ENST00000393567.2	-	56	9466	c.9316A>C	c.(9316-9318)Aag>Cag	p.K3106Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3106										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGAACCCTTTTTGGGTTGG	0.433000													25	71					0	0	0.007291	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75553738	75553738	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:75553738C>T	ENST00000604729.1	+	12	2858	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A854V|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A854V|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A821V|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.A854V					zinc finger, SWIM-type containing 8																		CACAACCTGGCCTTCCGAGTT	0.572000													10	16					0	0	0.008291	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180968	142180968	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:142180968G>A	ENST00000390368.2	-	0	48																											GCTGCATGACGGAGGGGTCTT	0.582000													18	43					0	0	0.008871	0	0
LPHN2	23266	broad.mit.edu	37	1	82408831	82408831	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:82408831C>T	ENST00000370728.1	+	8	1221	c.576C>T	c.(574-576)ttC>ttT	p.F192F	LPHN2_ENST00000319517.6_Silent_p.F192F|LPHN2_ENST00000359929.3_Silent_p.F192F|LPHN2_ENST00000370730.1_Silent_p.F192F|LPHN2_ENST00000370727.1_Silent_p.F192F|LPHN2_ENST00000394879.1_Silent_p.F192F|LPHN2_ENST00000370713.1_Silent_p.F192F|LPHN2_ENST00000370725.1_Silent_p.F192F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.F192F|LPHN2_ENST00000370721.1_Silent_p.F196F|LPHN2_ENST00000335786.5_Silent_p.F192F|LPHN2_ENST00000370717.2_Silent_p.F192F|LPHN2_ENST00000370723.1_Silent_p.F192F|LPHN2_ENST00000271029.4_Silent_p.F192F			O95490	LPHN2_HUMAN	latrophilin 2	192	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)		TAGAAGATTTCCAAAATAGTC	0.383000													7	16					0	0	0.004482	0	0
SCG3	29106	broad.mit.edu	37	15	51975628	51975628	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:51975628C>T	ENST00000220478.3	+	4	797	c.394C>T	c.(394-396)Caa>Taa	p.Q132*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	132					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TCATAAATTTCAAGGTAAATG	0.289000													38	19					0	0	0.004878	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167424	140167424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140167424G>A	ENST00000504120.2	+	1	1549	c.1549G>A	c.(1549-1551)Gtg>Atg	p.V517M	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V517M|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V517M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGCAAGGTGTACGCACT	0.687000													38	94					0	0	0.006230	0	0
PDE7B	27115	broad.mit.edu	37	6	136472385	136472385	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:136472385G>A	ENST00000308191.6	+	6	773	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	157					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ACCTTACACCGATTTTTAGGT	0.383000													18	28					0	0	0.004990	0	0
STRC	161497	broad.mit.edu	37	15	43893647	43893647	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:43893647C>T	ENST00000450892.2	-	24	4725	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N	STRC_ENST00000541030.1_Missense_Mutation_p.D777N	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1550					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTCCCCAGTCCACTAGGATC	0.577000													34	22					0	0	0.002222	0	0
MYLK3	91807	broad.mit.edu	37	16	46773972	46773972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:46773972C>T	ENST00000394809.4	-	2	680	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	189					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACTCACCTTCCCCAGGCTCC	0.498000													52	73					0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79026206	79026206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:79026206C>T	ENST00000446378.2	+	2	1649	c.1618C>T	c.(1618-1620)Cca>Tca	p.P540S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	540	Glu-rich.					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)		CCCAGAAAGCCCATTGGTTTC	0.428000													41	82					0	0	0.006230	0	0
IL27	246778	broad.mit.edu	37	16	28511061	28511061	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:28511061A>T	ENST00000356897.1	-	5	665	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	215					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACGGCCCGAGATAAGACGAGC	0.672000													9	16					0	0	0.008291	0	0
PATL1	219988	broad.mit.edu	37	11	59420467	59420467	+	Silent	SNP	C	C	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:59420467C>A	ENST00000300146.9	-	10	1230	c.1146G>T	c.(1144-1146)gcG>gcT	p.A382A		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	382	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCTATCTCCCGCACCATTGA	0.438000													5	174					0.00198382	0.0026157	0.001984	1	0
WNK1	65125	broad.mit.edu	37	12	971371	971371	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:971371G>A	ENST00000537687.1	+	8	2717	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	WNK1_ENST00000530271.2_Missense_Mutation_p.G692R|WNK1_ENST00000315939.6_Missense_Mutation_p.G692R|WNK1_ENST00000535572.1_Missense_Mutation_p.G692R|WNK1_ENST00000340908.4_Missense_Mutation_p.G285R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	692					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACAGTCCCAGGGCATATACC	0.468000													26	52					0	0	0.001786	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687339	27687339	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:27687339G>A	ENST00000438700.3	-	4	2305	c.2188C>T	c.(2188-2190)Cca>Tca	p.P730S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	730					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGAAAATTTGGAAAATTGCTT	0.313000													10	22					0	0	0.006214	0	0
ABCA10	10349	broad.mit.edu	37	17	67149465	67149465	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:67149465C>T	ENST00000269081.4	-	35	5026	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1373	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTGCCCCTCGGGGTCCATC	0.478000													31	70					0	0	0.002445	0	0
INPP5E	56623	broad.mit.edu	37	9	139326424	139326424	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139326424G>A	ENST00000371712.3	-	7	1803	c.1401C>T	c.(1399-1401)acC>acT	p.T467T		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	467						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CATCGAAGCGGGTGGTGACGT	0.657000													16	24					0	0	0.004007	0	0
SELRC1	65260	broad.mit.edu	37	1	53153451	53153451	+	Nonsense_Mutation	SNP	G	G	A	rs149085843		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:53153451G>A	ENST00000371538.3	-	3	676	c.637C>T	c.(637-639)Cga>Tga	p.R213*	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	213							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TGCTGGGCTCGATTTTTTAGC	0.532000													29	42					0	0	0.001786	0	0
PCLO	27445	broad.mit.edu	37	7	82583262	82583262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82583262G>A	ENST00000423517.2	-	5	7344	c.7007C>T	c.(7006-7008)tCc>tTc	p.S2336F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2336F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2267	Poly-Pro.|Pro-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						CACGGTTTCGGATAAGCTACT	0.423000													92	76					0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169511549	169511549	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:169511549G>A	ENST00000367796.3	-	13	2995	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S	F5_ENST00000367797.3_Missense_Mutation_p.P927S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	927	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P927S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCACTAGGAGGGTCCTTCCAG	0.473000													29	63					0	0	0.008361	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70946256	70946256	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:70946256C>T	ENST00000359655.4	+	3	467	c.407C>T	c.(406-408)tCc>tTc	p.S136F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	136					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTCTCATTCCCTGGATGTG	0.353000													23	57					0	0	0.005443	0	0
EVC	2121	broad.mit.edu	37	4	5798917	5798917	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:5798917C>T	ENST00000382674.2	+	14	2239	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.S685S			P57679	EVC_HUMAN	Ellis van Creveld syndrome	685					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGGGTCCTCCCAGTGCCTGG	0.677000													8	16					0	0	0.004482	0	0
FGD3	89846	broad.mit.edu	37	9	95768333	95768333	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:95768333C>G	ENST00000375482.3	+	6	1204	c.708C>G	c.(706-708)atC>atG	p.I236M	FGD3_ENST00000337352.6_Missense_Mutation_p.I236M|FGD3_ENST00000416701.2_Missense_Mutation_p.I236M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	236	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCGGGGACATCCTGCAGAAGC	0.557000													39	100					0	0	0.007835	0	0
MIR520D	574482	broad.mit.edu	37	19	54223389	54223389	+	RNA	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:54223389G>T	ENST00000385002.1	+	0	40					NR_030204.1																						CCTTTCTGTTGTCTAAAAGAA	0.423000													40	81					9.73076e-26	1.30231e-25	0.006999	1	0
FER1L6	654463	broad.mit.edu	37	8	125076656	125076656	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:125076656G>C	ENST00000522917.1	+	26	3603	c.3397G>C	c.(3397-3399)Gat>Cat	p.D1133H	FER1L6_ENST00000399018.1_Missense_Mutation_p.D1133H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1133						integral to membrane		p.D1133N(1)		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)			TCCCCCAGCAGATCACATTTA	0.572000													46	149					0	0	0.003610	0	0
APOH	350	broad.mit.edu	37	17	64216785	64216785	+	Missense_Mutation	SNP	G	G	A	rs11551960		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:64216785G>A	ENST00000205948.6	-	5	528	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	164	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCGATAGAGGGAATTGTTTCC	0.408000													18	55					0	0	0.002299	0	0
AKR1C2	1646	broad.mit.edu	37	10	5037948	5037948	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:5037948C>T	ENST00000380753.4	-	6	867	c.680_splice	c.e6+1	p.W227_splice	AKR1C2_ENST00000421196.3_Splice_Site_p.W201_splice|RP11-499O7.7_ENST00000451575.2_RNA|AKR1C2_ENST00000407674.1_Splice_Site_p.W227_splice	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	227					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CTCTTATTACCATGGTTCTTC	0.403000													16	19					0	0	0.004990	0	0
ALDH7A1	501	broad.mit.edu	37	5	125896802	125896802	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:125896802C>T	ENST00000409134.3	-	10	1105	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.E323K|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.E296K	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	296					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCTCCAAGTTCCAACAGACTT	0.348000													27	52					0	0	0.003954	0	0
SASH1	23328	broad.mit.edu	37	6	148853933	148853933	+	Splice_Site	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:148853933G>A	ENST00000367467.3	+	14	2040	c.1564_splice	c.e14-1	p.S522_splice		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	522							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCTGTACAGGCGGTCAAACA	0.522000													4	73					0	0	0.000602	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509688	117509688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:117509688C>T	ENST00000393203.2	+	6	1942	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	599	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTCTCCAGTCCCAATGAAAC	0.463000													29	58					0	0	0.008361	0	0
MLPH	79083	broad.mit.edu	37	2	238449015	238449015	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:238449015G>A	ENST00000264605.3	+	10	1423	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.E349K|MLPH_ENST00000445024.2_Missense_Mutation_p.E377K|MLPH_ENST00000409373.1_Missense_Mutation_p.E309K|MLPH_ENST00000410032.1_Missense_Mutation_p.E234K	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	377							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGTGCGCACGGAGGCCGATGT	0.617000													20	19					0	0	0.002780	0	0
MYBL2	4605	broad.mit.edu	37	20	42331398	42331398	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:42331398C>T	ENST00000217026.4	+	8	1347	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	MYBL2_ENST00000396863.4_Missense_Mutation_p.P383L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCACACCGCCCTCTGTGCTC	0.622000													12	33					0	0	0.001368	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307928	39307928	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:39307928C>T	ENST00000541347.1	-	2	312	c.73G>A	c.(73-75)Gac>Aac	p.D25N	CX3CR1_ENST00000542107.1_Missense_Mutation_p.D25N|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D57N|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D25N	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	25					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)		ACCACGATGTCCCCAATATAA	0.463000													21	32					0	0	0.001882	0	0
LDB1	8861	broad.mit.edu	37	10	103871230	103871230	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:103871230G>A	ENST00000425280.1	-	2	431	c.89C>T	c.(88-90)cCc>cTc	p.P30L	LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	30					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGGAAGGGGGGAAAGGCGTT	0.572000													21	51					0	0	0.001882	0	0
CCDC53	51019	broad.mit.edu	37	12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						WASH complex	protein binding	p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294000													6	7					0	0	0.004482	0	0
RARA	5914	broad.mit.edu	37	17	38487555	38487555	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:38487555C>T	ENST00000254066.5	+	2	540	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	RARA_ENST00000425707.3_Missense_Mutation_p.P29S|RARA_ENST00000394089.2_Missense_Mutation_p.P29S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	29	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTCTTCTTCCCCCCTATGCT	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	47					0	0	0.008871	0	0
WDR33	55339	broad.mit.edu	37	2	128471308	128471308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:128471308G>A	ENST00000322313.4	-	18	3315	c.3157C>T	c.(3157-3159)Ccg>Tcg	p.P1053S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1053					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAAACGGAGGCCCAGGG	0.662000													52	70					0	0	0.003610	0	0
F10	2159	broad.mit.edu	37	13	113783888	113783888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113783888G>A	ENST00000375559.3	+	2	231	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	F10_ENST00000375551.3_Missense_Mutation_p.E65K|F10_ENST00000409306.1_Missense_Mutation_p.E65K|F10_ENST00000483537.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	65	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTCATACGAAGAGGCCCG	0.572000													14	55					0	0	0.004007	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810992	106810992	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:106810992G>A	ENST00000407775.2	+	7	1030	c.780G>A	c.(778-780)cgG>cgA	p.R260R	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.R128R|ZFPM2_ENST00000517361.1_Silent_p.R128R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	260					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R260R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGGTATCGGAGTGAGCGGA	0.488000													20	23					0	0	0.001882	0	0
ARSF	416	broad.mit.edu	37	X	3007669	3007669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3007669G>A	ENST00000381127.1	+	7	1184	c.963G>A	c.(961-963)atG>atA	p.M321I	ARSF_ENST00000359361.2_Missense_Mutation_p.M321I|ARSF_ENST00000537104.1_Missense_Mutation_p.M321I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	321						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TGGACTCCATGGTGGGTAAGT	0.493000													27	9					0	0	0.007291	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409325	1409325	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:1409325A>G	ENST00000381524.3	+	7	755	c.569A>G	c.(568-570)aAt>aGt	p.N190S	CSF2RA_ENST00000501036.2_Missense_Mutation_p.N57S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N190S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.N190S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.N190S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.N190S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.N190S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.N190S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N190S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N190S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	190						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	ACGTCTCGCAATTACTTTCTG	0.418000													130	205					0	0	0.003610	0	0
DHRS7C	201140	broad.mit.edu	37	17	9694527	9694527	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:9694527C>T	ENST00000330255.4	-	1	87	c.75G>A	c.(73-75)gaG>gaA	p.E25E	DHRS7C_ENST00000571134.1_Silent_p.E25E	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	25						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCCTGGACACCTCTTGGTAAA	0.557000													9	21					0	0	0.004482	0	0
C4BPB	725	broad.mit.edu	37	1	207265145	207265145	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:207265145C>A	ENST00000243611.5	+	3	683	c.389C>A	c.(388-390)cCc>cAc	p.P130H	C4BPB_ENST00000367076.3_Missense_Mutation_p.P129H|C4BPB_ENST00000451804.2_Missense_Mutation_p.P120H|C4BPB_ENST00000367078.3_Missense_Mutation_p.P130H|C4BPB_ENST00000391923.1_Missense_Mutation_p.P130H	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	130	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TGGGCACCTCCCTTTCCCATC	0.453000													18	26					1.33834e-09	1.7725e-09	0.007413	1	0
SAMM50	25813	broad.mit.edu	37	22	44372662	44372662	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:44372662C>T	ENST00000350028.4	+	9	967	c.810C>T	c.(808-810)tcC>tcT	p.S270S	SAMM50_ENST00000396202.3_Silent_p.S60S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	270					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGAATTCTTCCATCTTACCAA	0.438000													10	29					0	0	0.002450	0	0
PAN2	9924	broad.mit.edu	37	12	56716906	56716906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:56716906C>T	ENST00000425394.2	-	17	2821	c.2445G>A	c.(2443-2445)atG>atA	p.M815I	PAN2_ENST00000548043.1_Missense_Mutation_p.M815I|PAN2_ENST00000440411.3_Missense_Mutation_p.M811I|PAN2_ENST00000257931.5_Missense_Mutation_p.M814I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	815					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGTCATCTTCATGCGAATGG	0.488000													58	84					0	0	0.003610	0	0
CPT1B	1375	broad.mit.edu	37	22	51009841	51009841	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:51009841G>A	ENST00000360719.2	-	14	1840	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	CPT1B_ENST00000440709.1_Missense_Mutation_p.A487V|CPT1B_ENST00000312108.7_Missense_Mutation_p.A568V|CPT1B_ENST00000457250.1_Missense_Mutation_p.A534V|CPT1B_ENST00000405237.3_Missense_Mutation_p.A568V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A568V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.A363V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	568					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)		CTGCACAAAGGCATCAGGGCT	0.627000													43	52					0	0	0.002852	0	0
HERC1	8925	broad.mit.edu	37	15	63935234	63935234	+	Silent	SNP	A	A	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:63935234A>T	ENST00000443617.2	-	59	11442	c.11355T>A	c.(11353-11355)gtT>gtA	p.V3785V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3785					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						agcctatcacaacagtttgca	0.343000													5	8					0	0	0.000602	0	0
HSD17B12	51144	broad.mit.edu	37	11	43702463	43702463	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:43702463C>T	ENST00000278353.4	+	1	205	c.86C>T	c.(85-87)tCg>tTg	p.S29L	HSD17B12_ENST00000529261.1_Intron|HSD17B12_ENST00000395700.4_Missense_Mutation_p.S29L	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	29					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						ATTTCGTACTCGCTCTTCACG	0.692000													19	41					0	0	0.006122	0	0
DNA2	1763	broad.mit.edu	37	10	70192195	70192195	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:70192195G>A	ENST00000399180.2	-	11	1976	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	DNA2_ENST00000358410.3_Silent_p.T573T|DNA2_ENST00000399179.2_Silent_p.T573T			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	573					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTCCTAATGGGGTATCTATAT	0.313000													4	11					0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346978	140346978	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140346978G>A	ENST00000289269.5	+	1	1159	c.627G>A	c.(625-627)ctG>ctA	p.L209L	PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		209	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			TGCTTGAGCTGGTGCTGCGTA	0.627000													19	12					0	0	0.006122	0	0
NPHS1	4868	broad.mit.edu	37	19	36333451	36333451	+	Splice_Site	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:36333451C>T	ENST00000378910.5	-	18	2335	c.2334_splice	c.e18-1	p.G779_splice	NPHS1_ENST00000353632.6_Splice_Site_p.G779_splice	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	779	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATCTTCTCCCTGGAGGCC	0.577000													27	43					0	0	0.006320	0	0
FAM170A	340069	broad.mit.edu	37	5	118970010	118970010	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:118970010G>A	ENST00000515256.1	+	3	739	c.567G>A	c.(565-567)ggG>ggA	p.G189G				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	189						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGCCCAGTGGGGAGGAGAAAG	0.562000													36	58					0	0	0.004878	0	0
CCBE1	147372	broad.mit.edu	37	18	57115233	57115233	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:57115233C>A	ENST00000439986.4	-	7	794	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CCBE1_ENST00000398179.2_Silent_p.L28L	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	253	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCCTGGCCCCCAGGCAGGCCA	0.587000													47	64					8.72198e-27	1.16906e-26	0.003610	1	0
MYOCD	93649	broad.mit.edu	37	17	12656124	12656124	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12656124C>T	ENST00000425538.1	+	10	1719	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P411S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P507S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGCTCTGTTCCTTCTGAGCT	0.572000													12	19					0	0	0.002450	0	0
GPR158	57512	broad.mit.edu	37	10	25886955	25886955	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:25886955G>A	ENST00000376351.3	+	11	2759	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	800						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAACACAGGGAAATCCAAGG	0.547000													25	40					0	0	0.004656	0	0
EPS15L1	58513	broad.mit.edu	37	19	16472729	16472729	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:16472729G>A	ENST00000455140.2	-	23	2513	c.2447C>T	c.(2446-2448)cCa>cTa	p.P816L	EPS15L1_ENST00000248070.6_Missense_Mutation_p.P816L|EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000594975.1_3'UTR	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	816	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCCCCGAGTGGCTGGAATGG	0.517000													21	31					0	0	0.002780	0	0
GPR116	221395	broad.mit.edu	37	6	46845956	46845956	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:46845956C>T	ENST00000283296.7	-	10	1511	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	GPR116_ENST00000265417.7_Missense_Mutation_p.G408E|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.G408E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	408	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTTATTTTTCCTTCCTGCTT	0.408000													19	35					0	0	0.002780	0	0
CA9	768	broad.mit.edu	37	9	35675828	35675828	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35675828C>T	ENST00000378357.4	+	3	608	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	168	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATATCCGCCCCCAGCTCGCCG	0.711000													11	14					0	0	0.008291	0	0
MAN2C1	4123	broad.mit.edu	37	15	75650637	75650637	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:75650637G>A	ENST00000565683.1	-	21	2514	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	MAN2C1_ENST00000569482.1_Missense_Mutation_p.R818C|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R818C|MAN2C1_ENST00000563622.1_Missense_Mutation_p.R719C	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	818					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCCGCACGCGAGCAGGGAAC	0.587000													24	60					0	0	0.004656	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522566	96522566	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:96522566C>T	ENST00000371321.3	+	1	186	c.104C>T	c.(103-105)cCt>cTt	p.P35L	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	35					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCCTACTCCTCTCCCAGTG	0.453000													35	43					0	0	0.002836	0	0
CACNA1B	774	broad.mit.edu	37	9	140901302	140901302	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:140901302C>T	ENST00000371372.1	+	16	2203	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	CACNA1B_ENST00000371355.4_Silent_p.S687S|CACNA1B_ENST00000371357.1_Silent_p.S687S|CACNA1B_ENST00000277551.2_Silent_p.S686S|CACNA1B_ENST00000371363.1_Silent_p.S686S|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	686					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)	TGTTCTCGTCCTTTTACTTCA	0.557000													7	9					0	0	0.004482	0	0
TRPM5	29850	broad.mit.edu	37	11	2436059	2436059	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:2436059C>T	ENST00000452833.1	-	11	1644	c.1636G>A	c.(1636-1638)Ggt>Agt	p.G546S	TRPM5_ENST00000155858.6_Missense_Mutation_p.G544S|TRPM5_ENST00000528453.1_Missense_Mutation_p.G544S|TRPM5_ENST00000533060.1_Missense_Mutation_p.G544S			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	544						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGCCACACCTTCCTGGCCC	0.697000													57	42					0	0	0.003610	0	0
PAOX	196743	broad.mit.edu	37	10	135197568	135197568	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:135197568C>T	ENST00000278060.5	+	4	1056	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.L325L|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	463					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CAAAATCTTCCTGGAGTTTGA	0.562000													37	62					0	0	0.006230	0	0
VPS51	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64875963C>T	ENST00000279281.3	+	5	1112	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TGGCGGCCTTCGCCCGGCAGC	0.716000													23	22					0	0	0.002299	0	0
FAM26D	221301	broad.mit.edu	37	6	116879226	116879226	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:116879226T>A	ENST00000368596.3	+	2	841	c.797T>A	c.(796-798)aTt>aAt	p.I266N	FAM26D_ENST00000416171.2_Missense_Mutation_p.I122N|FAM26D_ENST00000368597.2_Missense_Mutation_p.I80N|FAM26D_ENST00000405399.1_Missense_Mutation_p.I123N			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	266						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		CACATCCGCATTCCTTCTTGT	0.468000													52	57					0	0	0.003610	0	0
SPACA7	122258	broad.mit.edu	37	13	113055406	113055406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113055406C>T	ENST00000375699.3	+	4	452	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	SPACA7_ENST00000283550.3_Missense_Mutation_p.H125Y			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	125						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						tgcaaatctccatggcgatcc	0.418000													23	40					0	0	0.002780	0	0
TRRAP	8295	broad.mit.edu	37	7	98547353	98547353	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:98547353G>T	ENST00000359863.4	+	36	5212	c.5003G>T	c.(5002-5004)cGa>cTa	p.R1668L	TRRAP_ENST00000355540.3_Missense_Mutation_p.R1650L|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1649L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1668					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCAGTTGCGACGTGTGTGG	0.532000													16	32					1.56452e-12	2.09073e-12	0.007413	1	0
NPAS1	4861	broad.mit.edu	37	19	47535937	47535937	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:47535937G>A	ENST00000602212.1	+	5	689	c.469G>A	c.(469-471)Gga>Aga	p.G157R	NPAS1_ENST00000449844.2_Missense_Mutation_p.G157R|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	157	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GAACCAGGAAGGAAAATTCCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	50					0	0	0.002445	0	0
ABCA3	21	broad.mit.edu	37	16	2374517	2374517	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2374517G>A	ENST00000301732.5	-	6	1035	c.335C>T	c.(334-336)tCc>tTc	p.S112F	ABCA3_ENST00000567910.1_Missense_Mutation_p.S112F|ABCA3_ENST00000382381.3_Missense_Mutation_p.S112F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	112					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)				GTCCTTCTCGGAGGGAAAGCC	0.587000													13	20					0	0	0.002450	0	0
ZNF618	114991	broad.mit.edu	37	9	116812373	116812373	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:116812373C>T	ENST00000288466.7	+	14	2611	c.2512C>T	c.(2512-2514)Cta>Tta	p.L838L	ZNF618_ENST00000374126.5_Silent_p.L931L|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACAAGCGCTTCTAATCAAACG	0.493000													42	85					0	0	0.002522	0	0
LINC00610	399879	broad.mit.edu	37	11	36293293	36293293	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:36293293G>A	ENST00000355500.1	-	0	278																											CAACCTCTGGGGTCTAGATGG	0.527000													12	46					0	0	0.004007	0	0
MYH3	4621	broad.mit.edu	37	17	10541369	10541369	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:10541369C>T	ENST00000583535.1	-	27	3807	c.3720G>A	c.(3718-3720)tcG>tcA	p.S1240S	MYH3_ENST00000226209.7_Silent_p.S1240S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1240					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S1240S(1)		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						CCTTAGATTTCGACACACTCT	0.547000													32	57					0	0	0.002836	0	0
VWA3B	200403	broad.mit.edu	37	2	98914472	98914472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:98914472C>T	ENST00000477737.1	+	24	3464	c.3260C>T	c.(3259-3261)gCc>gTc	p.A1087V	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087								p.A1087D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGGGGGCGCCATGCCCTGC	0.587000													28	83					0	0	0.006320	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113153388	113153388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113153388C>T	ENST00000261965.3	-	20	2605	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E807K	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	807					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTTTTCTCTTCAAACTGTAAT	0.353000													16	32					0	0	0.006122	0	0
TRHDE	29953	broad.mit.edu	37	12	72893288	72893288	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:72893288G>A	ENST00000261180.4	+	6	1556	c.1460G>A	c.(1459-1461)aGg>aAg	p.R487K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	487					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAAAGCAGAGGTTTCTGACC	0.438000													13	15					0	0	0.001368	0	0
CDS1	1040	broad.mit.edu	37	4	85562137	85562137	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:85562137G>A	ENST00000295887.5	+	10	1449	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	342					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGGCAGTCTTGAGACAGGTAC	0.348000													28	32					0	0	0.006320	0	0
TMEM119	338773	broad.mit.edu	37	12	108986066	108986066	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:108986066C>T	ENST00000392806.3	-	2	262	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	32						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGAACGTGGCCTTCAGGGGC	0.711000													5	9					0	0	0.003080	0	0
CALR	811	broad.mit.edu	37	19	13054393	13054393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:13054393G>A	ENST00000316448.5	+	8	1076	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	335	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCACCAACGATGAGGCATA	0.577000													22	34					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179606520	179606520	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:179606520C>T	ENST00000589042.1	-	48	11664	c.11440G>A	c.(11440-11442)Gaa>Aaa	p.E3814K	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3576K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3451K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3643K|TTN_ENST00000591111.1_Missense_Mutation_p.E3497K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3497							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)			CCTTCCTTTTCGGAATCAAAT	0.403000													10	19					0	0	0.008291	0	0
LINC00610	399879	broad.mit.edu	37	11	36293292	36293292	+	RNA	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:36293292G>A	ENST00000355500.1	-	0	279																											CCAACCTCTGGGGTCTAGATG	0.527000													12	48					0	0	0.004007	0	0
BAI3	577	broad.mit.edu	37	6	69772902	69772902	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:69772902G>A	ENST00000370598.1	+	16	3231	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	804					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)				TTCGTTTCTGGAGATAGAACT	0.363000													5	7					0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	131964221	131964221	+	Silent	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:131964221G>A	ENST00000286355.5	-	3	3226	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	ADCY8_ENST00000377928.3_Silent_p.L378L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	378					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAACCGGGGGAGCACAGAAA	0.542000										HNSCC(32;0.087)			17	61					0	0	0.006122	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464031	50464031	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:50464031G>T	ENST00000447370.2	-	2	328	c.238C>A	c.(238-240)Cca>Aca	p.P80T	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P80T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	80	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGTCTTTGGGCTGGTCCGT	0.597000													16	30					2.35188e-11	3.13349e-11	0.006122	1	0
ABCA1	19	broad.mit.edu	37	9	107646745	107646745	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:107646745C>T	ENST00000374736.3	-	4	659	c.265G>A	c.(265-267)Gag>Aag	p.E89K	ABCA1_ENST00000374733.1_Missense_Mutation_p.E29K|ABCA1_ENST00000423487.2_Missense_Mutation_p.E89K	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	89					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)	CCGGGAGCCTCCCCAGGAGTC	0.443000													26	49					0	0	0.005443	0	0
ASXL3	80816	broad.mit.edu	37	18	31319839	31319839	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:31319839C>T	ENST00000269197.5	+	11	2471	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	824					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						GAAGCATTTCCGTCTGAAGAT	0.448000													9	19					0	0	0.004482	0	0
RXFP2	122042	broad.mit.edu	37	13	32339209	32339209	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:32339209G>A	ENST00000298386.2	+	4	426	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RXFP2_ENST00000380314.1_Missense_Mutation_p.E119K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	119						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGACTGCAAAGAAACTGAATT	0.318000													16	23					0	0	0.004990	0	0
GPR101	83550	broad.mit.edu	37	X	136112705	136112705	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:136112705G>A	ENST00000298110.1	-	1	1128	c.1129C>T	c.(1129-1131)Cca>Tca	p.P377S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	377						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGACTGGGTGGGAGGCTCTCC	0.507000													45	18					0	0	0.002852	0	0
MYBL2	4605	broad.mit.edu	37	20	42331391	42331391	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:42331391A>G	ENST00000217026.4	+	8	1340	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A	MYBL2_ENST00000396863.4_Missense_Mutation_p.T381A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGCATTGGCACACCGCCCTC	0.627000													16	30					0	0	0.004990	0	0
ACTG1	71	broad.mit.edu	37	17	79478515	79478515	+	Silent	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:79478515C>T	ENST00000575842.1	-	3	927	c.501G>A	c.(499-501)gaG>gaA	p.E167E	ACTG1_ENST00000575087.1_Silent_p.E167E|ACTG1_ENST00000331925.2_Silent_p.E167E|ACTG1_ENST00000573283.1_Silent_p.E167E			P63261	ACTG_HUMAN	actin, gamma 1	167					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGGCGTAGCCCTCGTAGATGG	0.642000													42	61					0	0	0.007835	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256350	15256350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:15256350G>A	ENST00000378116.4	-	8	1243	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	413						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGAGCATGGGGGTGTGCAGG	0.587000													22	62					0	0	0.002780	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526745	234526745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:234526745G>A	ENST00000373450.4	+	1	455	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_019076.4	NP_061949.3												p.R131Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTAATGACCGAAAATTAGTA	0.358000													41	83					0	0	0.008740	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1																						TGGGCAACAGCGAGGGAAATG	0.502000													4	49					0	0	0.000248	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489630	233489630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:233489630G>A	ENST00000366624.3	+	3	1325	c.1064G>A	c.(1063-1065)gGg>gAg	p.G355E	MLK4_ENST00000366623.3_Missense_Mutation_p.G355E	NM_032435.2	NP_115811.2																					GTGGCTTATGGGGTAGCAGTC	0.512000													23	49					0	0	0.002299	0	0
DRD2	1813	broad.mit.edu	37	11	113283578	113283578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:113283578C>T	ENST00000362072.3	-	7	1182	c.838G>A	c.(838-840)Gag>Aag	p.E280K	DRD2_ENST00000538967.1_Missense_Mutation_p.E282K|DRD2_ENST00000544518.1_Missense_Mutation_p.E279K|DRD2_ENST00000542968.1_Missense_Mutation_p.E280K|DRD2_ENST00000355319.2_Missense_Mutation_p.E282K|DRD2_ENST00000346454.3_Missense_Mutation_p.E251K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	280	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATCTCCATCTCCAGCTCCTGG	0.672000													21	35					0	0	0.001523	0	0
ACOT12	134526	broad.mit.edu	37	5	80681586	80681586	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:80681586C>G	ENST00000307624.3	-	2	215	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	ACOT12_ENST00000513751.1_Missense_Mutation_p.E63Q	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	63	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTAGCTGTCTCCTCAAACTGT	0.453000													15	19					0	0	0.003163	0	0
PRB1	5542	broad.mit.edu	37	12	11506270	11506270	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:11506270G>A	ENST00000500254.2	-	4	405	c.368C>T	c.(367-369)cCt>cTt	p.P123L	PRB1_ENST00000546254.1_Missense_Mutation_p.P123L|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	317	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGTGGGGGACC	0.617000													103	146					0	0	0.003610	0	0
OR51L1	119682	broad.mit.edu	37	11	5020909	5020909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5020909C>T	ENST00000321543.1	+	1	697	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	233					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)		TATTGCATCTCGTGAAGAGCA	0.418000													11	24					0	0	0.008291	0	0
FAM149A	25854	broad.mit.edu	37	4	187086509	187086509	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:187086509T>A	ENST00000356371.5	+	11	1928	c.1928T>A	c.(1927-1929)gTg>gAg	p.V643E	FAM149A_ENST00000389354.5_Missense_Mutation_p.V352E|FAM149A_ENST00000227065.4_Missense_Mutation_p.V352E|FAM149A_ENST00000502970.1_Missense_Mutation_p.V352E|FAM149A_ENST00000514153.1_Missense_Mutation_p.V352E|FAM149A_ENST00000503432.1_Missense_Mutation_p.V352E			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	643										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCGACTGGCGTGGACCACATG	0.557000													19	34					0	0	0.002299	0	0
NEU4	129807	broad.mit.edu	37	2	242755725	242755725	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:242755725G>A	ENST00000391969.2	+	3	755	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	NEU4_ENST00000405370.1_Missense_Mutation_p.R15Q|NEU4_ENST00000407683.1_Missense_Mutation_p.R15Q|NEU4_ENST00000325935.6_Missense_Mutation_p.R28Q|NEU4_ENST00000404257.1_Missense_Mutation_p.R27Q	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	15						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCTTCGAGCGGGAGAGGACG	0.692000													22	33					0	0	0.002299	0	0
HRNR	388697	broad.mit.edu	37	1	152191011	152191011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:152191011C>T	ENST00000368801.2	-	3	3169	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1032					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)			GAAGACCACCCTGAGCCAGAC	0.597000													69	131					0	0	0.003610	0	0
F13A1	2162	broad.mit.edu	37	6	6152106	6152106	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:6152106C>T	ENST00000264870.3	-	14	2250	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	662					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAGACATTTCGCAGGGTTTC	0.498000													22	36					0	0	0.001523	0	0
MAGI1	9223	broad.mit.edu	37	3	65415434	65415434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:65415434G>A	ENST00000330909.8	-	12	1927	c.1928C>T	c.(1927-1929)aCt>aTt	p.T643I	MAGI1_ENST00000497477.2_Missense_Mutation_p.T643I|MAGI1_ENST00000483466.1_Missense_Mutation_p.T643I|MAGI1_ENST00000402939.2_Missense_Mutation_p.T643I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	643	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AATATGAACAGTTATGAGTTC	0.488000													12	18					0	0	0.001368	0	0
UNC13C	440279	broad.mit.edu	37	15	54305830	54305830	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:54305830G>A	ENST00000545554.1	+	1	730	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E244K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E244K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	244					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATGTCATGGAAATGATCTT	0.448000													14	13					0	0	0.001855	0	0
PRSS1	5644	broad.mit.edu	37	7	142459821	142459821	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:142459821C>T	ENST00000486171.1	+	4	456	c.439C>T	c.(439-441)Cca>Tca	p.P147S	PRSS1_ENST00000311737.7_Missense_Mutation_p.P133S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	133	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACCGCCCCTCCAGCCACTGG	0.572000													37	83					0	0	0.005524	0	0
F13B	2165	broad.mit.edu	37	1	197032122	197032122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:197032122delT	ENST00000367412.1	-	2	173	c.130delA	c.(130-132)gcfs	p.S44fs		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	44	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAGTAAAAGCTTTTAAAAGTA	0.358													54	64	---	---	---	---					
STK39	27347	broad.mit.edu	37	2	169103872	169103892	+	In_Frame_Del	DEL	GCCGCCGCCGCTGTCACCGGG	GCCGCCGCCGCTGTCACCGGG	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG	ENST00000355999.4	-	1	759_779	c.54_74delCCCGGTGACAGCGGCGGCGGC	c.(52-75)gcg>gc	p.APVTAAAA18del		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	18	Ala/Pro-rich.				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						cggggccgccgccgccgccgctgtcaccggggccgccTGCT	0.814													3	5	---	---	---	---					
MS4A2	2206	broad.mit.edu	37	11	59857807	59857815	+	Splice_Site	DEL	AGGTAACAC	AGGTAACAC	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:59857807_59857815delAGGTAACAC	ENST00000278888.3	+	3	288_295	c.186_splice	c.e3-1	p.G62_splice		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	62					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GTTTTTCTATAGGTAACACAAATTCTGAC	0.321													15	89	---	---	---	---					
ARL6IP4	51329	broad.mit.edu	37	12	123466293	123466295	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123466293_123466295delGAA	ENST00000315580.5	+	3	1033_1035	c.705_707delGAA	c.(703-708)agg>ag	p.RK235del	ARL6IP4_ENST00000392435.2_In_Frame_Del_p.RK216del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.RK93del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.RK227del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.RK104del|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.RK93del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.RK101del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.RK216del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.RK104del			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	235	Lys-rich.				RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		acaagaggaggaagaagaagaag	0.571													3	6	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													7	12	---	---	---	---