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
SLC12A2	6558	broad.mit.edu	37	5	127497454	127497454	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:127497454G>A	ENST00000262461.2	+	17	2767	c.2578G>A	c.(2578-2580)Gca>Aca	p.A860T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A860T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	860					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCAGTACATGCAGATGACTT	0.363000													9	37					0	0	0.080935	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228333	142228333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:142228333C>A	ENST00000519067.1	-	4	1556	c.1253G>T	c.(1252-1254)cGg>cTg	p.R418L	SLC45A4_ENST00000024061.3_Missense_Mutation_p.R418L|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R411L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R469L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	469					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)			GTTCCGGTGCCGGTGCTGCCG	0.692000													18	33					8.34094e-07	9.30831e-07	0.049695	1	0
DHDDS	79947	broad.mit.edu	37	1	26784337	26784337	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:26784337C>G	ENST00000360009.2	+	7	675	c.598C>G	c.(598-600)Cct>Gct	p.P200A	DHDDS_ENST00000525682.2_Missense_Mutation_p.P166A|DHDDS_ENST00000526219.1_Missense_Mutation_p.P161A|DHDDS_ENST00000236342.7_Missense_Mutation_p.P200A	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	200							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTCTCCTCATCCTGACATCTT	0.458000													33	140					0	0	0.139131	0	0
CSMD3	114788	broad.mit.edu	37	8	113694814	113694814	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:113694814C>A	ENST00000297405.5	-	16	2778	c.2534G>T	c.(2533-2535)cGg>cTg	p.R845L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R805L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R741L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R845L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	845	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCCCAAACCGCCGTGCATT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			60	83					3.82274e-22	5.23812e-22	0.139131	1	0
TAAR6	319100	broad.mit.edu	37	6	132892095	132892095	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:132892095T>C	ENST00000275198.1	+	1	635	c.635T>C	c.(634-636)aTt>aCt	p.I212T		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	212						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCTACCTTTATTATGATAATT	0.368000													26	21					0	0	0.116897	0	0
OR7E24	26648	broad.mit.edu	37	19	9361818	9361818	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:9361818G>T	ENST00000456448.1	+	1	213	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCTCCTCCTGGGACTCTCAG	0.512000													23	31					9.86323e-18	1.27486e-17	0.091800	1	0
DSC2	1824	broad.mit.edu	37	18	28671061	28671061	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:28671061C>A	ENST00000280904.6	-	4	847	c.404G>T	c.(403-405)aGa>aTa	p.R135I	DSC2_ENST00000251081.6_Missense_Mutation_p.R135I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	135					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGCCCATCTTCTCTTGGCGCG	0.388000													5	7					2.7689e-08	3.15508e-08	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	9021061	9021061	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:9021061T>A	ENST00000397910.4	-	19	37465	c.37262A>T	c.(37261-37263)cAg>cTg	p.Q12421L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3.				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						CACCAGACCCTGCAGGACCCT	0.547000													97	104					0	0	0.139131	0	0
MARCH3	115123	broad.mit.edu	37	5	126214019	126214019	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:126214019A>T	ENST00000308660.5	-	4	975	c.461T>A	c.(460-462)tTt>tAt	p.F154Y		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	154					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGGAGTTATAAACAAGAAGCA	0.592000													9	28					0	0	0.069234	0	0
INTS8	55656	broad.mit.edu	37	8	95866086	95866086	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:95866086A>T	ENST00000523731.1	+	14	1828	c.1695A>T	c.(1693-1695)ttA>ttT	p.L565F	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.L565F	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	565					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGACAATTTAACAAGAGATT	0.333000													31	126					0	0	0.086207	0	0
KRT37	8688	broad.mit.edu	37	17	39578657	39578657	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:39578657C>A	ENST00000225550.3	-	4	761	c.762G>T	c.(760-762)ggG>ggT	p.G254G	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	254	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACTTCTCCCCCAGCTGAC	0.557000													112	277					2.2589e-70	3.74752e-70	0.139131	1	0
ATP8A2	51761	broad.mit.edu	37	13	26144947	26144947	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr13:26144947G>A	ENST00000381655.2	+	17	1658	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.V466M	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	466					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTTCTGGCCGTGTGCCACAC	0.587000													61	48					0	0	0.139131	0	0
SAMD9	54809	broad.mit.edu	37	7	92730817	92730817	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:92730817C>G	ENST00000379958.2	-	3	4863	c.4594G>C	c.(4594-4596)Ggt>Cgt	p.G1532R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1532						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAGCTCGACCTTGTAAACGA	0.383000													9	41					0	0	0.058154	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672872	141672872	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:141672872G>A	ENST00000547270.1	-	1	701	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAAACAATAGGAAAGGAGGCA	0.438000													12	78					0	0	0.033300	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119805412	119805412	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:119805412T>A	ENST00000355624.3	-	1	702	c.263A>T	c.(262-264)cAc>cTc	p.H88L	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.H88L	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	88	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CAGGGACCTGTGCATAACTAT	0.433000													17	47					0	0	0.049695	0	0
MLEC	9761	broad.mit.edu	37	12	121131925	121131925	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:121131925G>A	ENST00000228506.3	+	2	695	c.267G>A	c.(265-267)ctG>ctA	p.L89L	MLEC_ENST00000412616.2_Silent_p.L89L	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	89					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGCCAATCCTGCGTTCCAACC	0.498000													8	33					0	0	0.047766	0	0
PRR5L	79899	broad.mit.edu	37	11	36459026	36459026	+	Splice_Site	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:36459026G>C	ENST00000378867.3	+	7	799	c.444_splice	c.e7+1	p.Q148_splice	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Splice_Site_p.Q122_splice|PRR5L_ENST00000530639.1_Splice_Site_p.Q148_splice|PRR5L_ENST00000527487.1_Splice_Site_p.Q148_splice	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	148										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						ATCCAGTTCAGGTTAGTCTCA	0.512000													29	76					0	0	0.144211	0	0
COASY	80347	broad.mit.edu	37	17	40716755	40716755	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:40716755A>G	ENST00000393818.2	+	4	1532	c.1076A>G	c.(1075-1077)tAt>tGt	p.Y359C	COASY_ENST00000421097.2_Missense_Mutation_p.Y359C|COASY_ENST00000449624.1_Missense_Mutation_p.Y64C|COASY_ENST00000420359.1_Missense_Mutation_p.Y359C|COASY_ENST00000590958.1_Missense_Mutation_p.Y388C	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	359					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ACATGTCTCTATGTAATTGGG	0.587000													51	232					0	0	0.139131	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719026	140719026	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140719026G>T	ENST00000394576.2	+	1	488	c.488G>T	c.(487-489)gGt>gTt	p.G163V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACGTAGGTGAGAACGCC	0.527000													50	130					2.17126e-26	3.08247e-26	0.139131	1	0
SLC14A2	8170	broad.mit.edu	37	18	43223096	43223096	+	Splice_Site	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:43223096G>T	ENST00000255226.6	+	9	1942		c.e9-1		SLC14A2_ENST00000586448.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCTCCACAGCCCTGTTCTG	0.552000													43	30					1.67886e-27	2.40711e-27	0.139131	1	0
PCLO	27445	broad.mit.edu	37	7	82585973	82585973	+	Silent	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:82585973T>A	ENST00000423517.2	-	5	4633	c.4296A>T	c.(4294-4296)tcA>tcT	p.S1432S	PCLO_ENST00000333891.8_Silent_p.S1432S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1363					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						TTTTCTTTTCTGACTTTTCAT	0.398000													12	37					0	0	0.132662	0	0
TBX20	57057	broad.mit.edu	37	7	35289649	35289649	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:35289649G>T	ENST00000408931.3	-	2	820	c.294C>A	c.(292-294)gcC>gcA	p.A98A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	98						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGGCAATTTTGGCCATTTCCT	0.582000													9	35					1.58986e-06	1.76516e-06	0.069234	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			26	18					6.84511e-11	8.09818e-11	0.059317	1	0
NPAP1	23742	broad.mit.edu	37	15	24921886	24921886	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:24921886G>T	ENST00000329468.2	+	1	1346	c.872G>T	c.(871-873)gGc>gTc	p.G291V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCTCCCTAGGCTTGCCGATT	0.612000													36	24					1.02591e-13	1.25485e-13	0.117977	1	0
SFRP2	6423	broad.mit.edu	37	4	154702676	154702676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:154702676G>T	ENST00000274063.4	-	3	1099	c.815C>A	c.(814-816)tCg>tAg	p.S272*		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCGCTTCACCGAGGTGATCAC	0.592000													35	68					5.20837e-25	7.29846e-25	0.104719	1	0
S100A16	140576	broad.mit.edu	37	1	153580051	153580051	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:153580051C>A	ENST00000368704.1	-	3	456	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	S100A16_ENST00000368703.2_Missense_Mutation_p.A91S|S100A16_ENST00000368706.4_Missense_Mutation_p.A91S|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Missense_Mutation_p.A91S			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	91						cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGTTTGGCGATGGGGCCG	0.602000													62	54					1.37693e-34	2.07739e-34	0.139131	1	0
COL12A1	1303	broad.mit.edu	37	6	75797446	75797446	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:75797446T>C	ENST00000322507.8	-	65	9337	c.9028A>G	c.(9028-9030)Aga>Gga	p.R3010G	COL12A1_ENST00000483888.2_Missense_Mutation_p.R3006G|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2934G|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1846G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3010	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGACCTGTTCTGGATTCTCCT	0.527000													15	41					0	0	0.146539	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:76461484G>A	ENST00000307431.8	+	5	908	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G175R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G151R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G179R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	176	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398000													15	10					0	0	0.132662	0	0
HKR1	284459	broad.mit.edu	37	19	37853986	37853986	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:37853986G>A	ENST00000591471.1	+	9	2111	c.470G>A	c.(469-471)aGa>aAa	p.R157K	HKR1_ENST00000544914.1_Missense_Mutation_p.R157K|HKR1_ENST00000392153.3_Missense_Mutation_p.R411K|HKR1_ENST00000541583.2_Missense_Mutation_p.R369K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Missense_Mutation_p.R430K|HKR1_ENST00000589392.1_Missense_Mutation_p.R412K			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	430					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCTCATCAGACACTTAAGG	0.478000													5	53					0	0	0.014758	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73181665	73181665	+	Silent	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:73181665T>C	ENST00000286657.4	-	11	1545	c.1509A>G	c.(1507-1509)aaA>aaG	p.K503K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	503	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCACAGCTGTTTACATGGGT	0.398000													21	23					0	0	0.134883	0	0
DSG4	147409	broad.mit.edu	37	18	28986106	28986106	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:28986106T>A	ENST00000359747.4	+	12	1732	c.1703T>A	c.(1702-1704)gTg>gAg	p.V568E	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V568E|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	568					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAATCCTGGTGAAGGACAGC	0.458000													19	25					0	0	0.069288	0	0
POU4F2	5458	broad.mit.edu	37	4	147560397	147560397	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:147560397C>A	ENST00000281321.3	+	1	353	c.105C>A	c.(103-105)ggC>ggA	p.G35G		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	35					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCTCGCCGGGCTCCTCGGCTC	0.731000													4	9					0.014758	0.0150358	0.014758	1	0
C11orf82	220042	broad.mit.edu	37	11	82644264	82644264	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:82644264C>T	ENST00000533655.1	+	6	2096	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.C628C|C11orf82_ENST00000329143.3_Silent_p.C327C	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	628					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTACAATTTGCAGGAAACTTA	0.318000													15	49					0	0	0.119110	0	0
TRAV19	28664	broad.mit.edu	37	14	22476385	22476385	+	RNA	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:22476385G>C	ENST00000390447.3	+	0	432																											CACAAGTCGTGGACTCAGCAG	0.493000													5	10					0	0	0.029380	0	0
DGKB	1607	broad.mit.edu	37	7	14722260	14722260	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:14722260G>T	ENST00000403951.2	-	12	1372	c.953C>A	c.(952-954)cCa>cAa	p.P318Q	DGKB_ENST00000399322.3_Missense_Mutation_p.P318Q|DGKB_ENST00000444700.2_Missense_Mutation_p.P311Q|DGKB_ENST00000258767.5_Missense_Mutation_p.P318Q|DGKB_ENST00000402815.1_Missense_Mutation_p.P318Q|DGKB_ENST00000407950.1_Missense_Mutation_p.P311Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P318Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	318					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACACTTGGTTGGGCAGTTACC	0.428000													55	112					2.05175e-36	3.1282e-36	0.139131	1	0
NACA2	342538	broad.mit.edu	37	17	59668348	59668348	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:59668348C>A	ENST00000521764.1	-	1	215	c.194G>T	c.(193-195)gGt>gTt	p.G65V		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTTGCTTTACCGACTGGTTC	0.483000													90	177					4.04957e-52	6.59197e-52	0.139131	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32893929	32893929	+	RNA	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:32893929G>T	ENST00000330048.5	-	0	1328					NR_003083.2																						CACTGGCACAGTCTTCATGGC	0.592000													71	335					2.77303e-49	4.4803e-49	0.139131	1	0
POU1F1	5449	broad.mit.edu	37	3	87313652	87313652	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:87313652G>T	ENST00000350375.2	-	3	349	c.225C>A	c.(223-225)acC>acA	p.T75T	POU1F1_ENST00000560656.1_Silent_p.T75T|POU1F1_ENST00000344265.3_Silent_p.T101T	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	75					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AAAGACAAGGGGTTAAACTAC	0.403000													23	27					3.6726e-16	4.63626e-16	0.091800	1	0
AP1G2	8906	broad.mit.edu	37	14	24034374	24034374	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:24034374C>T	ENST00000308724.5	-	7	1531	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R259Q	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	259					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCGTGGTTCCGGCCCAGGAT	0.577000													21	62					0	0	0.099896	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128758	20128758	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr22:20128758C>T	ENST00000334554.7	+	8	1054	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R305W|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R213W	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	305						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CAGCCTGGACCGGCTGGATGA	0.662000													29	35					0	0	0.045705	0	0
CBLN2	147381	broad.mit.edu	37	18	70209181	70209181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:70209181G>T	ENST00000269503.4	-	3	988	c.215C>A	c.(214-216)cCg>cAg	p.P72Q	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.P72Q|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	72						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTCCGCCGACGGGCTGGAGTC	0.711000													12	6					1.52009e-12	1.83342e-12	0.132662	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814523	106814523	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:106814523G>T	ENST00000407775.2	+	8	2463	c.2213G>T	c.(2212-2214)cGc>cTc	p.R738L	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469L|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	738					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			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)			ACACGCAAGCGCAGAAAGATG	0.507000													4	22					0.014758	0.0150358	0.014758	1	0
CACNA1A	773	broad.mit.edu	37	19	13423559	13423559	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:13423559G>T	ENST00000360228.5	-	12	1591	c.1592C>A	c.(1591-1593)tCc>tAc	p.S531Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S532Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	532					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAACATTTCGGACATAAAGAG	0.463000													20	34					1.64293e-13	2.00392e-13	0.083992	1	0
PROKR1	10887	broad.mit.edu	37	2	68873388	68873388	+	Silent	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:68873388T>C	ENST00000303786.3	+	2	855	c.435T>C	c.(433-435)acT>acC	p.T145T	PROKR1_ENST00000394342.2_Silent_p.T145T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	145						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCTGCGCACTGTCTCTCTCT	0.597000													56	102					0	0	0.139131	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			6	235					0	0	0.021553	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305841	18305841	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:18305841A>T	ENST00000599612.2	+	4	609	c.509A>T	c.(508-510)tAc>tTc	p.Y170F	MPV17L2_ENST00000534474.2_Silent_p.L144L	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	170						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CGAGTCACCTACATCAACGGC	0.642000													99	128					0	0	0.139131	0	0
COL11A1	1301	broad.mit.edu	37	1	103491809	103491809	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:103491809C>A	ENST00000370096.3	-	6	1172	c.860G>T	c.(859-861)gGa>gTa	p.G287V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G287V|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	287	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACAGTGGGTCCCTCTGTTAC	0.433000													63	61					4.90955e-16	6.17976e-16	0.139131	1	0
EPHA3	2042	broad.mit.edu	37	3	89521687	89521687	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:89521687G>T	ENST00000336596.2	+	16	2989	c.2764G>T	c.(2764-2766)Ggt>Tgt	p.G922C	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	922	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGGCTTAATGGTGTCTGGAC	0.438000										TSP Lung(6;0.00050)			47	85					6.52717e-41	1.03148e-40	0.139131	1	0
CCDC81	60494	broad.mit.edu	37	11	86086261	86086261	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:86086261C>T	ENST00000445632.2	+	1	328	c.56C>T	c.(55-57)aCt>aTt	p.T19I	CCDC81_ENST00000354755.1_Missense_Mutation_p.T19I|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	19										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GTGCTGCCCACTCTGCCCTCG	0.617000													45	160					0	0	0.139131	0	0
CEP350	9857	broad.mit.edu	37	1	179966310	179966310	+	Splice_Site	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:179966310G>A	ENST00000367607.3	+	6	1436	c.1018_splice	c.e6+1	p.G340_splice		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	340						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCATATAAAGGTTTGTAATC	0.403000													26	173					0	0	0.134883	0	0
GRID1	2894	broad.mit.edu	37	10	87362377	87362377	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:87362377G>T	ENST00000327946.7	-	16	2768	c.2683C>A	c.(2683-2685)Cca>Aca	p.P895T	GRID1_ENST00000536331.1_Missense_Mutation_p.P466T|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	895						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)	ATCGACGCTGGGGAAATCTGC	0.592000										Multiple Myeloma(13;0.14)			4	18					4.096e-09	4.71694e-09	0.021553	1	0
ATP13A1	57130	broad.mit.edu	37	19	19766235	19766235	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:19766235T>A	ENST00000357324.6	-	11	1450	c.1424A>T	c.(1423-1425)tAc>tTc	p.Y475F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.Y357F|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	475					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAACAGCTTGTAGCGGTTCCG	0.657000													11	22					0	0	0.119110	0	0
ZNF257	113835	broad.mit.edu	37	19	22272138	22272138	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:22272138A>G	ENST00000594947.1	+	4	1730	c.1586A>G	c.(1585-1587)tAc>tGc	p.Y529C		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTTTCTCATACCTTACCGTA	0.373000													11	33					0	0	0.105934	0	0
BCL11B	64919	broad.mit.edu	37	14	99724031	99724031	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:99724031C>A	ENST00000345514.2	-	2	470	c.204G>T	c.(202-204)ggG>ggT	p.G68G	BCL11B_ENST00000357195.3_Silent_p.G68G|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGGATGTCCCCCAAGGGGA	0.597000			T	TLX3	T-ALL								40	55					2.9001e-28	4.19981e-28	0.139131	1	0
FZD5	7855	broad.mit.edu	37	2	208632656	208632656	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:208632656G>A	ENST00000295417.3	-	2	1361	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	270					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AAGATGATGGGGCGCTCAGGA	0.622000													3	8					0	0	0.009096	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524000	24524000	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:24524000C>A	ENST00000376862.3	+	2	900	c.267C>A	c.(265-267)ccC>ccA	p.P89P		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	89					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCTACCGGCCCAACATCATCC	0.667000													35	87					6.97489e-18	9.04229e-18	0.074837	1	0
TRIM54	57159	broad.mit.edu	37	2	27521572	27521572	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:27521572G>T	ENST00000296098.4	+	2	576	c.306G>T	c.(304-306)gaG>gaT	p.E102D	TRIM54_ENST00000380075.2_Missense_Mutation_p.E102D	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	102					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTAGTGGAGAACATTATCG	0.557000													9	42					7.48243e-07	8.3935e-07	0.058154	1	0
B3GALT6	126792	broad.mit.edu	37	1	1168029	1168029	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:1168029C>G	ENST00000379198.2	+	1	401	c.371C>G	c.(370-372)gCg>gGg	p.A124G		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	124					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCCCGCGCTGCGCGAC	0.736000													6	11					0	0	0.021553	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871675	20871675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:20871675C>A	ENST00000324344.3	-	3	733	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.G150C	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	150	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCTTTGCAGCCATCAAAAAAC	0.383000													3	37					0.115264	0.115799	0.115264	1	0
CSPG4	1464	broad.mit.edu	37	15	75975044	75975044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:75975044C>T	ENST00000308508.5	-	7	4779	c.4687G>A	c.(4687-4689)Ggc>Agc	p.G1563S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1563	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTGCTCGCCGTCAGAGAGG	0.667000													37	49					0	0	0.098360	0	0
PROKR1	10887	broad.mit.edu	37	2	68873389	68873389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:68873389G>T	ENST00000303786.3	+	2	856	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	PROKR1_ENST00000394342.2_Missense_Mutation_p.V146F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	146						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGCGCACTGTCTCTCTCTA	0.592000													54	99					5.19286e-32	7.78031e-32	0.139131	1	0
GPR98	84059	broad.mit.edu	37	5	89971181	89971181	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:89971181C>G	ENST00000405460.2	+	24	5328	c.5232C>G	c.(5230-5232)atC>atG	p.I1744M	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1744					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTGGTCATCCGTGCACAGG	0.507000													15	51					0	0	0.038395	0	0
CLCN1	1180	broad.mit.edu	37	7	143048740	143048740	+	Silent	SNP	C	C	A	rs146366176	by1000genomes	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:143048740C>A	ENST00000343257.2	+	23	2736	c.2649C>A	c.(2647-2649)ccC>ccA	p.P883P		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	883					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)					TCCGCCCTCCCCTTGCCAGCT	0.562000													24	56					2.36697e-06	2.58161e-06	0.125774	1	0
SEC24B	10427	broad.mit.edu	37	4	110394218	110394218	+	Silent	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:110394218A>T	ENST00000265175.5	+	3	991	c.936A>T	c.(934-936)ccA>ccT	p.P312P	SEC24B_ENST00000399100.2_Silent_p.P312P|SEC24B_ENST00000504968.2_Silent_p.P343P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	312					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGTCCAGCCCAGTGGTATCCA	0.443000													43	88					0	0	0.139131	0	0
BSN	8927	broad.mit.edu	37	3	49691789	49691789	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:49691789G>T	ENST00000296452.4	+	5	4914	c.4800G>T	c.(4798-4800)ccG>ccT	p.P1600P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1600					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAACACCTCCGAGTGTGTCTC	0.642000													13	45					4.75885e-15	5.92121e-15	0.033300	1	0
EHD3	30845	broad.mit.edu	37	2	31483565	31483565	+	Missense_Mutation	SNP	G	G	T	rs113087929		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:31483565G>T	ENST00000322054.5	+	4	977	c.692G>T	c.(691-693)cGg>cTg	p.R231L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	231					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAGCTGATGCGGGTGTACGGG	0.572000													14	55					1.3612e-06	1.51517e-06	0.132662	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524477	73524477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:73524477G>T	ENST00000339534.2	+	1	453	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	126							nucleic acid binding|zinc ion binding	p.A126T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GAAAGACTGCGCCCAGGTCAA	0.562000													42	11					3.76525e-18	4.92554e-18	0.139131	1	0
OR5H2	79310	broad.mit.edu	37	3	98001807	98001807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:98001807C>A	ENST00000355273.2	+	1	76	c.76C>A	c.(76-78)Cca>Aca	p.P26T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TACATATCAGCCAGAGTGGAA	0.423000													73	274					1.75807e-36	2.68991e-36	0.139131	1	0
ADD1	118	broad.mit.edu	37	4	2916624	2916624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:2916624C>T	ENST00000355842.3	+	15	2575	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M	ADD1_ENST00000398123.2_Missense_Mutation_p.T571M|ADD1_ENST00000264758.7_Missense_Mutation_p.T571M|ADD1_ENST00000398125.1_Missense_Mutation_p.T571M|ADD1_ENST00000398129.1_Missense_Mutation_p.T540M|ADD1_ENST00000513328.2_Missense_Mutation_p.T540M|ADD1_ENST00000446856.1_Missense_Mutation_p.T540M|ADD1_ENST00000503455.2_Missense_Mutation_p.T571M			P35611	ADDA_HUMAN	adducin 1 (alpha)	540					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCTGGTGACGGCCTCCAAG	0.642000													33	76					0	0	0.074837	0	0
C2orf53	339779	broad.mit.edu	37	2	27360872	27360872	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:27360872C>A	ENST00000335524.3	-	3	851	c.326G>T	c.(325-327)cGt>cTt	p.R109L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	109	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agaggatgcacgtggacgggg	0.557000													13	22					7.93312e-07	8.87608e-07	0.119110	1	0
SASH1	23328	broad.mit.edu	37	6	148840912	148840912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:148840912G>T	ENST00000367467.3	+	10	1567	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	364							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)		GCCTGATTAAGCCCCCCAAGA	0.587000													14	9					3.52763e-06	3.82823e-06	0.033300	1	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													3	34					0	0	0.009096	0	0
SAMSN1	64092	broad.mit.edu	37	21	15893514	15893514	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr21:15893514C>T	ENST00000285670.2	-	3	464	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SAMSN1_ENST00000400566.1_Missense_Mutation_p.R29H|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	29					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATTCCGAAAACGATCGAAATT	0.289000													10	30					0	0	0.132662	0	0
CETP	1071	broad.mit.edu	37	16	56995954	56995954	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:56995954C>A	ENST00000200676.3	+	1	193	c.63C>A	c.(61-63)ggC>ggA	p.G21G	CETP_ENST00000379780.2_Silent_p.G21G|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	21					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCTCCAAAGGCACCTCGCACG	0.607000													33	48					1.04352e-10	1.23118e-10	0.064281	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43926984	43926984	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:43926984G>C	ENST00000282406.4	+	8	997	c.887G>C	c.(886-888)gGa>gCa	p.G296A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	296						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGAGCAAAGGAAGATCCAAG	0.517000													4	19					0	0	0.009096	0	0
NLRC5	84166	broad.mit.edu	37	16	57081479	57081479	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:57081479C>T	ENST00000436936.1	+	23	3586	c.3361C>T	c.(3361-3363)Ccc>Tcc	p.P1121S	NLRC5_ENST00000308149.7_Missense_Mutation_p.P1121S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1121S|NLRC5_ENST00000262510.6_Missense_Mutation_p.P1121S			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1121					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCTCTGGAGCCCCCAAGCCT	0.632000													7	14					0	0	0.038147	0	0
HRNR	388697	broad.mit.edu	37	1	152191375	152191375	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:152191375C>T	ENST00000368801.2	-	3	2805	c.2730G>A	c.(2728-2730)ggG>ggA	p.G910G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	910					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)			CGGAGCCAGACCCATGTCGGC	0.647000													85	217					0	0	0.139131	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543540	182543540	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:182543540G>T	ENST00000295108.3	-	2	505	c.48C>A	c.(46-48)ccC>ccA	p.P16P	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	16					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAGGACCTTGGGGCTGAGGCT	0.532000													25	71					2.47872e-24	3.46222e-24	0.117977	1	0
DRD5	1816	broad.mit.edu	37	4	9785004	9785004	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:9785004G>A	ENST00000304374.2	+	1	1747	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	451					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGACCCTGTTGCTGAGTCTGT	0.527000													29	44					0	0	0.054565	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550272	4550272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:4550272G>T	ENST00000586582.1	-	12	1444	c.1134C>A	c.(1132-1134)tgC>tgA	p.C378*	SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.C378*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.C378*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	378	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGCTGCGCAGCACCCGG	0.602000													16	59					4.35082e-09	4.99709e-09	0.055883	1	0
PLCB4	5332	broad.mit.edu	37	20	9440444	9440444	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:9440444C>T	ENST00000378501.2	+	31	3214	c.3199C>T	c.(3199-3201)Ctg>Ttg	p.L1067L	PLCB4_ENST00000334005.3_Silent_p.L1067L|PLCB4_ENST00000378473.3_Silent_p.L1079L|PLCB4_ENST00000278655.4_Silent_p.L1067L|PLCB4_ENST00000414679.2_Silent_p.L1079L|PLCB4_ENST00000378493.1_Silent_p.L1067L|PLCB4_ENST00000492632.1_Intron	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1067					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGCTGAAACTGTCCCATGA	0.463000													11	11					0	0	0.105934	0	0
ZIC1	7545	broad.mit.edu	37	3	147128847	147128847	+	Silent	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:147128847C>G	ENST00000282928.4	+	1	1677	c.948C>G	c.(946-948)tcC>tcG	p.S316S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCGCGCGCTCCGAGAATTTAA	0.557000													18	45					0	0	0.069288	0	0
ADAM29	11086	broad.mit.edu	37	4	175898629	175898629	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:175898629C>A	ENST00000359240.3	+	5	2623	c.1953C>A	c.(1951-1953)ccC>ccA	p.P651P	ADAM29_ENST00000514159.1_Silent_p.P651P|ADAM29_ENST00000445694.1_Silent_p.P651P|ADAM29_ENST00000404450.4_Silent_p.P651P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	651	EGF-like.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGGACCCTCCCAACTGCCTGA	0.418000													21	31					1.85244e-09	2.14467e-09	0.083992	1	0
MYT1L	23040	broad.mit.edu	37	2	1921033	1921033	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:1921033T>A	ENST00000399161.2	-	11	2309	c.1562A>T	c.(1561-1563)tAc>tTc	p.Y521F	MYT1L_ENST00000428368.2_Missense_Mutation_p.Y519F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	521					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGATGTGGGTACAGCCCAGT	0.562000													82	146					0	0	0.139131	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562512	52562512	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:52562512C>A	ENST00000307076.4	-	5	881	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.G102W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.G173W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.G198W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	161							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGGGTACCCCCATACAGCTCA	0.577000													73	88					5.86298e-51	9.50812e-51	0.139131	1	0
SPATA8	145946	broad.mit.edu	37	15	97327478	97327478	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:97327478C>A	ENST00000328504.3	+	2	452	c.185C>A	c.(184-186)cCt>cAt	p.P62H	SPATA8_ENST00000558553.1_Silent_p.A21A	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	62										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCGGTGTGGCCTGCAAAGGAA	0.567000													24	34					2.44723e-14	3.01037e-14	0.099896	1	0
RTDR1	27156	broad.mit.edu	37	22	23404049	23404049	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr22:23404049G>A	ENST00000216036.4	-	6	924	c.728C>T	c.(727-729)cCa>cTa	p.P243L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	243							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATGCTCCACTGGGTCTTTCAG	0.582000													29	31					0	0	0.086207	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603145	140603145	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140603145T>A	ENST00000239449.4	+	1	68	c.68T>A	c.(67-69)tTg>tAg	p.L23*	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTGGGATTGTCTCGGGCA	0.483000													33	28					0	0	0.054565	0	0
INA	9118	broad.mit.edu	37	10	105048127	105048127	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:105048127G>C	ENST00000369849.4	+	3	1250	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	401	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAAACTGCTGGAAGGCGAGGA	0.468000													28	67					0	0	0.050027	0	0
CUBN	8029	broad.mit.edu	37	10	16930420	16930420	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:16930420T>A	ENST00000377833.4	-	56	8966	c.8901A>T	c.(8899-8901)ttA>ttT	p.L2967F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2967	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTACCTTCTAAGTGGAAGG	0.318000													13	19					0	0	0.093190	0	0
ANK2	287	broad.mit.edu	37	4	114158219	114158219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:114158219C>T	ENST00000357077.4	+	6	613	c.560C>T	c.(559-561)aCc>aTc	p.T187I	ANK2_ENST00000506722.1_Missense_Mutation_p.T166I|ANK2_ENST00000394537.3_Missense_Mutation_p.T187I|ANK2_ENST00000264366.6_Missense_Mutation_p.T187I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	187					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAATGACACCAAAGGGAAA	0.502000													88	124					0	0	0.139131	0	0
MKI67	4288	broad.mit.edu	37	10	129907666	129907666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:129907666G>T	ENST00000368654.3	-	13	2813	c.2438C>A	c.(2437-2439)gCa>gAa	p.A813E	MKI67_ENST00000368653.3_Missense_Mutation_p.A453E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	813					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCATTCTGTGCACTGAAGAA	0.393000													16	51					8.81451e-21	1.189e-20	0.049695	1	0
MLLT3	4300	broad.mit.edu	37	9	20448130	20448130	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr9:20448130C>A	ENST00000355930.6	-	0	669				MLLT3_ENST00000380338.4_Missense_Mutation_p.K137N|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.K134N			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.K137N(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CCCCTCCTGCCTTCAGCAACT	0.403000			T	MLL	ALL								58	63					1.52378e-38	2.37337e-38	0.139131	1	0
ATXN2L	11273	broad.mit.edu	37	16	28841268	28841268	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:28841268A>T	ENST00000336783.4	+	8	1090	c.923A>T	c.(922-924)cAg>cTg	p.Q308L	ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q308L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q308L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q308L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q308L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q308L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q308L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	308						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCAAGCCCCCAGTACCGCCTA	0.607000													25	41					0	0	0.116897	0	0
RND3	390	broad.mit.edu	37	2	151328205	151328205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:151328205C>A	ENST00000375734.2	-	4	668	c.419G>T	c.(418-420)cGg>cTg	p.R140L	RND3_ENST00000409557.1_Missense_Mutation_p.R11L|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.R140L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	140					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.R140Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AACATCTGTCCGCAGATCAGA	0.403000													22	89					7.41945e-09	8.47658e-09	0.108266	1	0
KCNC1	3746	broad.mit.edu	37	11	17793580	17793580	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:17793580C>A	ENST00000379472.3	+	2	969	c.939C>A	c.(937-939)gtC>gtA	p.V313V	KCNC1_ENST00000265969.6_Silent_p.V313V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	313						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCGCGTCGTCCGCTTCGTGC	0.637000													14	19					4.36969e-10	5.11372e-10	0.105934	1	0
PLCG1	5335	broad.mit.edu	37	20	39791337	39791337	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:39791337G>A	ENST00000373272.2	+	6	1058	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PLCG1_ENST00000244007.3_Missense_Mutation_p.R218H|PLCG1_ENST00000373271.1_Missense_Mutation_p.R218H	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	218					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTGTACCGCAGCCTCATG	0.647000													4	73					0	0	0.021553	0	0
AMER3	205147	broad.mit.edu	37	2	131521388	131521388	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:131521388G>C	ENST00000423981.1	+	2	1853	c.1743G>C	c.(1741-1743)gaG>gaC	p.E581D	AMER3_ENST00000321420.4_Missense_Mutation_p.E581D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCGCCGGAGAGAGCAAGGCCC	0.652000													12	59					0	0	0.105934	0	0
GPR125	166647	broad.mit.edu	37	4	22390058	22390058	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:22390058G>C	ENST00000334304.5	-	19	3505	c.3236C>G	c.(3235-3237)tCt>tGt	p.S1079C	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1079					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGTCCCATTAGAGTTGGGGGG	0.507000													13	42					0	0	0.132662	0	0
GFM2	84340	broad.mit.edu	37	5	74026156	74026156	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:74026156C>G	ENST00000296805.3	-	17	2112	c.1655G>C	c.(1654-1656)gGa>gCa	p.G552A	GFM2_ENST00000509430.1_Missense_Mutation_p.G552A|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Missense_Mutation_p.G505A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	552					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGTCTCCAGTCCATATTCCCT	0.418000													33	79					0	0	0.064281	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894314	78894314	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:78894314A>T	ENST00000326828.5	-	5	1054	c.670T>A	c.(670-672)Tgc>Agc	p.C224S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.C224S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	224					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.C224G(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCTCCTCGCAGCAGTTGTAC	0.547000													13	39					0	0	0.093190	0	0
NID1	4811	broad.mit.edu	37	1	236205296	236205296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:236205296G>T	ENST00000264187.6	-	4	1131	c.1049C>A	c.(1048-1050)aCc>aAc	p.T350N	NID1_ENST00000366595.3_Missense_Mutation_p.T350N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	350					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAAGACCTGGTTCTCTCTGT	0.557000													32	62					8.73648e-17	1.10935e-16	0.069456	1	0
SLC22A7	10864	broad.mit.edu	37	6	43270469	43270469	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:43270469G>A	ENST00000372585.5	+	9	1448	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	SLC22A7_ENST00000372589.3_Silent_p.L449L|SLC22A7_ENST00000372574.3_Silent_p.L449L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	451						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTGCCTACCTGTTCACTTCAG	0.522000													10	18					0	0	0.105934	0	0
GPR137C	283554	broad.mit.edu	37	14	53100621	53100621	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:53100621A>G	ENST00000321662.6	+	6	1069	c.1069A>G	c.(1069-1071)Agt>Ggt	p.S357G		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	357						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACGATATGATAGTGATGATGA	0.378000													52	63					0	0	0.139131	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31984820	31984820	+	Silent	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:31984820T>A	ENST00000357886.4	-	2	204	c.51A>T	c.(49-51)ggA>ggT	p.G17G	CDK5RAP1_ENST00000473997.1_Intron|CDK5RAP1_ENST00000544843.1_Silent_p.G17G|CDK5RAP1_ENST00000346416.2_Silent_p.G17G|CDK5RAP1_ENST00000339269.5_Silent_p.G17G|CDK5RAP1_ENST00000452723.3_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	17					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AGGCCAATGGTCCCCACCCCA	0.552000													68	119					0	0	0.139131	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507403	74507403	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:74507403C>A	ENST00000354431.4	-	7	1403	c.1212G>T	c.(1210-1212)atG>atT	p.M404I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.M404I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	404										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAACTCTTTCATACTCCGCT	0.353000													31	47					6.70999e-13	8.13844e-13	0.069456	1	0
SHOX	6473	broad.mit.edu	37	X	591847	591847	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:591847A>T	ENST00000381578.1	+	2	906	c.215A>T	c.(214-216)aAg>aTg	p.K72M	SHOX_ENST00000334060.3_Missense_Mutation_p.K72M|SHOX_ENST00000554971.1_Missense_Mutation_p.K72M|SHOX_ENST00000381575.1_Missense_Mutation_p.K72M	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	72					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				CATTTGTTCAAGGACCACGTA	0.627000													52	34					0	0	0.139131	0	0
PCDH7	5099	broad.mit.edu	37	4	30724796	30724796	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:30724796C>A	ENST00000361762.2	+	1	2760	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PCDH7_ENST00000543491.1_Silent_p.I584I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	584	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCTTTGCCATCGATCCCGATT	0.577000													14	23					3.41278e-10	4.0047e-10	0.033300	1	0
RAG2	5897	broad.mit.edu	37	11	36614998	36614998	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:36614998G>T	ENST00000311485.3	-	2	882	c.721C>A	c.(721-723)Ccc>Acc	p.P241T		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	241					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTACCCAGGGGAAGATCAACC	0.433000									Familial Hemophagocytic Lymphohistiocytosis				16	60					6.94344e-10	8.08202e-10	0.038395	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590189	140590189	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140590189G>A	ENST00000239450.2	+	1	1899	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	PCDHB12_ENST00000541609.1_Silent_p.A233A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		570	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCTCCGCGCCCTGCACCG	0.706000													36	149					0	0	0.111260	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240853	39240853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:39240853C>A	ENST00000391417.4	+	1	395	c.395C>A	c.(394-396)aCc>aAc	p.T132N		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCTGCCACACCACTTGCTAT	0.672000													7	32					3.09899e-07	3.50355e-07	0.047766	1	0
LCE1B	353132	broad.mit.edu	37	1	152785059	152785059	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:152785059T>A	ENST00000360090.3	+	1	613	c.137T>A	c.(136-138)gTc>gAc	p.V46D		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	46					keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGCAGTGTCAGCTCCGGA	0.642000													85	229					0	0	0.139131	0	0
GPT2	84706	broad.mit.edu	37	16	46960903	46960903	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:46960903G>A	ENST00000440783.2	+	11	1800	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	GPT2_ENST00000340124.4_Missense_Mutation_p.V479M	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	479					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CATCTGTGTCGTGCCCGGCAG	0.557000													5	106					0	0	0.029380	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957737	143957737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:143957737C>A	ENST00000292427.4	-	5	906	c.874G>T	c.(874-876)Gag>Tag	p.E292*	CYP11B1_ENST00000517471.1_Nonsense_Mutation_p.E292*|CYP11B1_ENST00000377675.3_Nonsense_Mutation_p.E363*	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	292					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AACAGGAGCTCCGCCACGATG	0.597000									Familial Hyperaldosteronism type I				17	29					2.23348e-06	2.44217e-06	0.146539	1	0
ANKAR	150709	broad.mit.edu	37	2	190554642	190554642	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:190554642A>G	ENST00000520309.1	+	3	1079	c.991A>G	c.(991-993)Aag>Gag	p.K331E	ANKAR_ENST00000438402.2_Missense_Mutation_p.K331E|ANKAR_ENST00000281412.6_Missense_Mutation_p.K95E|ANKAR_ENST00000313581.4_Missense_Mutation_p.K331E|ANKAR_ENST00000431575.2_Missense_Mutation_p.K260E|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	331						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAGTTTAAAGAAGAAAATGAA	0.269000													13	78					0	0	0.146539	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573613	140573613	+	Silent	SNP	G	G	T	rs17844571	byFrequency	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140573613G>T	ENST00000239446.4	+	1	1672	c.1488G>T	c.(1486-1488)ccG>ccT	p.P496P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		496	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAGACCCGCACCTGCCCC	0.672000													51	445					6.20943e-19	8.22228e-19	0.139131	1	0
CD226	10666	broad.mit.edu	37	18	67614144	67614144	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:67614144C>A	ENST00000280200.4	-	3	476	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V70F	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	70	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTCCTTATGACCATGCCATGA	0.448000													9	27					3.09899e-07	3.50355e-07	0.047766	1	0
ANGPTL7	10218	broad.mit.edu	37	1	11253738	11253738	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:11253738G>A	ENST00000376819.3	+	3	818	c.579G>A	c.(577-579)caG>caA	p.Q193Q	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	193	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGTACAAGCAGGGCTTTGGCA	0.572000													28	42					0	0	0.116897	0	0
OR2M7	391196	broad.mit.edu	37	1	248487363	248487363	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:248487363C>A	ENST00000317965.2	-	1	536	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TCCCGAGACCCACAGTAGGAG	0.453000													27	251					2.48696e-23	3.45145e-23	0.059317	1	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	96					0	0	0.038147	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499833	104499833	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr9:104499833G>A	ENST00000361820.3	-	1	1029	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	143					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACAGGTTGTAGGGTAGCAGCC	0.642000													24	26					0	0	0.116897	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910140	32910140	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:32910140T>A	ENST00000304056.4	-	4	1388	c.689A>T	c.(688-690)cAg>cTg	p.Q230L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	230										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CCAAGCTCTCTGTGTTACTTC	0.433000													24	72					0	0	0.116897	0	0
CACNA1A	773	broad.mit.edu	37	19	13428054	13428054	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:13428054C>T	ENST00000360228.5	-	11	1426	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R477H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	477					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATGTAGAAACGCATCCTCCT	0.493000													6	21					0	0	0.038147	0	0
COL4A5	1287	broad.mit.edu	37	X	107938036	107938036	+	Splice_Site	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:107938036G>C	ENST00000328300.6	+	51	4950		c.e51-1		COL4A5_ENST00000361603.2_Splice_Site	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTTTACCAGATGTGCAGTA	0.468000									Alport syndrome with Diffuse Leiomyomatosis				44	22					0	0	0.139131	0	0
LRRC17	10234	broad.mit.edu	37	7	102574728	102574728	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:102574728A>T	ENST00000249377.4	+	2	649	c.368A>T	c.(367-369)gAg>gTg	p.E123V	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E123V	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	123					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATTGAGAGTGAGGCGTTCTTT	0.418000													3	16					0	0	0.009096	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564820	84564820	+	RNA	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr9:84564820G>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CACTTGCAGTGTGAAGTCAAC	0.493000													5	3					0	0	0.021553	0	0
PACS1	55690	broad.mit.edu	37	11	66002783	66002783	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:66002783G>A	ENST00000320580.4	+	18	2149	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	PACS1_ENST00000529757.1_Missense_Mutation_p.V242M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	706					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCAACTGGACGTGGCAGGGCG	0.572000													3	85					0	0	0.014758	0	0
KCNS2	3788	broad.mit.edu	37	8	99441303	99441303	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:99441303T>C	ENST00000287042.4	+	2	1446	c.1096T>C	c.(1096-1098)Tgg>Cgg	p.W366R	KCNS2_ENST00000521839.1_Missense_Mutation_p.W366R	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	366						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGCCTGCTGGTGGTGGGCTAC	0.602000													17	54					0	0	0.062417	0	0
RANBP2	5903	broad.mit.edu	37	2	109381727	109381727	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:109381727G>A	ENST00000283195.6	+	20	4858	c.4732G>A	c.(4732-4734)Gtt>Att	p.V1578I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1578					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATCTACTTCTGTTCCAGCTCC	0.458000													43	157					0	0	0.139131	0	0
SPOPL	339745	broad.mit.edu	37	2	139318416	139318416	+	Silent	SNP	A	A	G	rs151051467	by1000genomes	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:139318416A>G	ENST00000280098.4	+	8	1135	c.756A>G	c.(754-756)aaA>aaG	p.K252K		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	252	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGTTTTTAAAGAAATGATGA	0.333000													16	74					0	0	0.049695	0	0
XKR4	114786	broad.mit.edu	37	8	56436339	56436339	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:56436339C>A	ENST00000327381.5	+	3	1606	c.1506C>A	c.(1504-1506)ggC>ggA	p.G502G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	502						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTTTAACTGGCGTTGTTTTTA	0.517000													15	65					6.94344e-10	8.08202e-10	0.038395	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54115252	54115252	+	Splice_Site	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:54115252T>A	ENST00000548263.1	-	6	805	c.758_splice	c.e6+1	p.R253_splice	CALCOCO1_ENST00000430117.2_Splice_Site_p.R220_splice|CALCOCO1_ENST00000262059.4_Splice_Site_p.R253_splice|CALCOCO1_ENST00000550804.1_Splice_Site_p.R253_splice			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	253					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCCCTCACCTGTCCAGCTCC	0.602000													139	99					0	0	0.139131	0	0
NRXN3	9369	broad.mit.edu	37	14	79181203	79181203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:79181203C>A	ENST00000554719.1	+	5	1137	c.646C>A	c.(646-648)Cgt>Agt	p.R216S	NRXN3_ENST00000335750.5_Missense_Mutation_p.R216S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	222	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R216S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCGGAGAACCGTGCTGGCCT	0.587000													39	62					1.30475e-32	1.96165e-32	0.111260	1	0
ANO3	63982	broad.mit.edu	37	11	26463611	26463611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:26463611C>T	ENST00000256737.3	+	2	1045	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.Q49*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Q49*|ANO3_ENST00000531646.1_Nonsense_Mutation_p.Q65*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	65						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAGTGAATCTCAGGCTCCCAC	0.468000													47	167					0	0	0.139131	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962437	48962437	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:48962437A>T	ENST00000523111.2	+	3	245	c.190A>T	c.(190-192)Agc>Tgc	p.S64C	UBE2V2_ENST00000521346.1_Missense_Mutation_p.S24C|UBE2V2_ENST00000520809.1_Missense_Mutation_p.S24C|UBE2V2_ENST00000517630.1_Missense_Mutation_p.S24C	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	64					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				CAGAATATATAGCCTGAAAGT	0.289000								Rad6 pathway					12	61					0	0	0.033300	0	0
RYR3	6263	broad.mit.edu	37	15	34151796	34151796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:34151796C>A	ENST00000389232.4	+	100	14233	c.14163C>A	c.(14161-14163)taC>taA	p.Y4721*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Y4716*|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4721					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCACATGTACGTGGGAGTGA	0.398000													24	21					2.80507e-11	3.3368e-11	0.050027	1	0
FAM131B	9715	broad.mit.edu	37	7	143056019	143056019	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:143056019G>T	ENST00000409408.1	-	4	1991	c.283C>A	c.(283-285)Cca>Aca	p.P95T	FAM131B_ENST00000409346.1_Missense_Mutation_p.P95T|FAM131B_ENST00000409578.1_Missense_Mutation_p.P111T|FAM131B_ENST00000443739.2_Missense_Mutation_p.P123T|FAM131B_ENST00000409222.3_Missense_Mutation_p.P95T			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	95										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGAACAGCTGGTGTCTTCCCC	0.602000													12	38					3.45872e-05	3.67065e-05	0.146539	1	0
CSMD3	114788	broad.mit.edu	37	8	113318300	113318300	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:113318300G>A	ENST00000297405.5	-	51	8251	c.8007C>T	c.(8005-8007)ctC>ctT	p.L2669L	CSMD3_ENST00000343508.3_Silent_p.L2629L|CSMD3_ENST00000455883.2_Silent_p.L2565L|CSMD3_ENST00000352409.3_Silent_p.L2599L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2669	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGCTGTAGTGAGTTCTTTGG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	240					0	0	0.047766	0	0
CDK5	1020	broad.mit.edu	37	7	150751345	150751345	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:150751345A>T	ENST00000485972.1	-	11	1427	c.746T>A	c.(745-747)gTg>gAg	p.V249E	CDK5_ENST00000297518.4_Missense_Mutation_p.V217E	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	249	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CACGACGTTCACCAGGGATGT	0.607000													8	44					0	0	0.093190	0	0
AGT	183	broad.mit.edu	37	1	230839063	230839063	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:230839063T>C	ENST00000366667.4	-	5	1496	c.1282A>G	c.(1282-1284)Att>Gtt	p.I428V		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	428					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TCAAAAAAAATGCTGTTCAGC	0.567000													36	62					0	0	0.104719	0	0
TDRD6	221400	broad.mit.edu	37	6	46659287	46659287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:46659287T>C	ENST00000544460.1	+	1	3676	c.3422T>C	c.(3421-3423)cTa>cCa	p.L1141P	TDRD6_ENST00000316081.6_Missense_Mutation_p.L1141P	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1141					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTATAGAACTATATGGTGAC	0.343000													41	73					0	0	0.139131	0	0
TCEA1	6917	broad.mit.edu	37	8	54934677	54934677	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:54934677G>T	ENST00000521604.2	-	1	412	c.9C>A	c.(7-9)gaC>gaA	p.D3E	TCEA1_ENST00000396401.3_Missense_Mutation_p.D3E|TCEA1_ENST00000520534.1_Missense_Mutation_p.D3E|TCEA1_ENST00000522635.1_Missense_Mutation_p.D3E|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000518784.1_Missense_Mutation_p.D3E	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	3	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GGACCACTTCGTCCTCCATGG	0.701000			T	PLAG1	salivary adenoma								57	83					9.59377e-39	1.49968e-38	0.139131	1	0
KLK8	11202	broad.mit.edu	37	19	51501061	51501061	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:51501061C>A	ENST00000600767.1	-	6	1062	c.573G>T	c.(571-573)caG>caT	p.Q191H	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.Q236H|KLK8_ENST00000347619.4_Missense_Mutation_p.Q50H|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.Q191H			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	191	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CATCTGTGATCTGCCCCGGGT	0.507000													31	119					8.16721e-17	1.04012e-16	0.045705	1	0
TACC2	10579	broad.mit.edu	37	10	123997013	123997013	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:123997013A>T	ENST00000369005.1	+	17	8571	c.8231A>T	c.(8230-8232)cAg>cTg	p.Q2744L	TACC2_ENST00000453444.2_Missense_Mutation_p.Q2671L|TACC2_ENST00000369001.1_Missense_Mutation_p.Q371L|TACC2_ENST00000368999.1_Missense_Mutation_p.Q834L|TACC2_ENST00000369000.1_Missense_Mutation_p.Q367L|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2744L|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2671L|TACC2_ENST00000358010.1_Missense_Mutation_p.Q890L|TACC2_ENST00000260733.3_Missense_Mutation_p.Q822L|TACC2_ENST00000369004.3_Missense_Mutation_p.Q804L|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2622L|TACC2_ENST00000360561.3_Missense_Mutation_p.Q792L|TACC2_ENST00000513429.1_Missense_Mutation_p.Q890L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2744						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGTTCCAGCAGCCCGACCTG	0.562000													10	37					0	0	0.093190	0	0
SNCB	6620	broad.mit.edu	37	5	176053742	176053742	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:176053742C>A	ENST00000310112.3	-	4	392	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	SNCB_ENST00000393693.2_Missense_Mutation_p.V48L|SNCB_ENST00000506696.1_Missense_Mutation_p.V48L|SNCB_ENST00000510387.1_Missense_Mutation_p.V48L	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	48	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGTACCACACCTTCTCGG	0.587000													77	75					7.30829e-53	1.19867e-52	0.139131	1	0
TRBV6-5	28602	broad.mit.edu	37	7	142180550	142180550	+	RNA	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:142180550G>T	ENST00000390368.2	-	0	374																											CAGATGTCTGGGAGGGAGCAG	0.567000													194	254					1.65135e-81	2.75013e-81	0.139131	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687000													22	93					0	0	0.108266	0	0
OVCH1	341350	broad.mit.edu	37	12	29649122	29649122	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:29649122G>C	ENST00000318184.5	-	3	272	c.273C>G	c.(271-273)agC>agG	p.S91R		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	91	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTCACTGAGGCTGTCCAGGC	0.468000													13	5					0	0	0.033300	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs150390977	by1000genomes	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				3	15					0	0	0.009096	0	0
CTDP1	9150	broad.mit.edu	37	18	77455229	77455229	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:77455229G>T	ENST00000299543.7	+	2	466	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F	CTDP1_ENST00000075430.7_Missense_Mutation_p.V107F	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	107					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTGTAGAGCGGTTCTGGTGAG	0.443000													27	30					2.75727e-19	3.67354e-19	0.074837	1	0
DGKB	1607	broad.mit.edu	37	7	14722261	14722261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:14722261G>T	ENST00000403951.2	-	12	1371	c.952C>A	c.(952-954)Cca>Aca	p.P318T	DGKB_ENST00000399322.3_Missense_Mutation_p.P318T|DGKB_ENST00000444700.2_Missense_Mutation_p.P311T|DGKB_ENST00000258767.5_Missense_Mutation_p.P318T|DGKB_ENST00000402815.1_Missense_Mutation_p.P318T|DGKB_ENST00000407950.1_Missense_Mutation_p.P311T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P318T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	318					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.P318T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CACTTGGTTGGGCAGTTACCT	0.433000													55	111					1.34159e-35	2.03828e-35	0.139131	1	0
IPO9	55705	broad.mit.edu	37	1	201841972	201841972	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:201841972A>T	ENST00000361565.4	+	20	2662	c.2593A>T	c.(2593-2595)Aag>Tag	p.K865*		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	865					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GGCACTCTGTAAGCTGCTCCA	0.512000													39	115					0	0	0.139131	0	0
TENM2	57451	broad.mit.edu	37	5	167689264	167689264	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:167689264G>A	ENST00000519204.1	+	28	7529	c.7411G>A	c.(7411-7413)Gat>Aat	p.D2471N	TENM2_ENST00000520394.1_Missense_Mutation_p.D2353N|TENM2_ENST00000518659.1_Missense_Mutation_p.D2592N|TENM2_ENST00000403607.2_Missense_Mutation_p.D2416N|TENM2_ENST00000545108.1_Missense_Mutation_p.D2591N					teneurin transmembrane protein 2																		CGCCAGCGAAGATAGCCGCAA	0.552000													3	35					0	0	0.115264	0	0
SMG7	9887	broad.mit.edu	37	1	183502906	183502906	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:183502906A>G	ENST00000367537.3	+	11	1384	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	SMG7_ENST00000456731.2_Missense_Mutation_p.M326V|SMG7_ENST00000508461.1_Missense_Mutation_p.M326V|SMG7_ENST00000515829.2_Missense_Mutation_p.M368V|SMG7_ENST00000347615.2_Missense_Mutation_p.M368V|SMG7_ENST00000507469.1_Missense_Mutation_p.M368V			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	368					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAAGGTCTCCATGGACTGGCT	0.453000													3	157					0	0	0.009096	0	0
GPR112	139378	broad.mit.edu	37	X	135429708	135429708	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:135429708G>T	ENST00000394143.1	+	6	4134	c.3843G>T	c.(3841-3843)aaG>aaT	p.K1281N	GPR112_ENST00000394141.1_Missense_Mutation_p.K1076N|GPR112_ENST00000287534.4_Missense_Mutation_p.K1218N|GPR112_ENST00000412101.1_Missense_Mutation_p.K1076N|GPR112_ENST00000370652.1_Missense_Mutation_p.K1281N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCCATCAAAGAATTCTTTTA	0.433000													22	8					2.39556e-15	2.98928e-15	0.076483	1	0
AGMO	392636	broad.mit.edu	37	7	15584468	15584468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:15584468G>T	ENST00000342526.3	-	3	507	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	113					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGTCCATGGAGAATCCCAAGG	0.398000													37	143					6.48837e-15	8.02704e-15	0.117977	1	0
PRKCE	5581	broad.mit.edu	37	2	46386830	46386830	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:46386830A>G	ENST00000306156.3	+	14	2333	c.2006A>G	c.(2005-2007)aAa>aGa	p.K669R		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	669	AGC-kinase C-terminal.				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)			CCATTCTTCAAAGAGATTGAC	0.557000													66	87					0	0	0.139131	0	0
RBM44	375316	broad.mit.edu	37	2	238726828	238726828	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:238726828G>T	ENST00000316997.4	+	3	1401	c.1269G>T	c.(1267-1269)caG>caT	p.Q423H	RBM44_ENST00000409864.1_Missense_Mutation_p.Q423H|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	422							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GAGATAATCAGGCAATAGAAG	0.373000													3	30					0.115264	0.115799	0.115264	1	0
COL12A1	1303	broad.mit.edu	37	6	75843620	75843620	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:75843620T>A	ENST00000322507.8	-	33	5927	c.5618A>T	c.(5617-5619)cAg>cTg	p.Q1873L	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1873L|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1873L|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q709L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1873	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGCTTGTACTGACGAGGATT	0.443000													23	24					0	0	0.083992	0	0
FFAR2	2867	broad.mit.edu	37	19	35941156	35941156	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:35941156G>T	ENST00000599180.1	+	2	620	c.540G>T	c.(538-540)cgG>cgT	p.R180R	FFAR2_ENST00000246549.2_Silent_p.R180R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	180						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCCGTGCGGCTGGAGCTGT	0.542000													55	71					2.2129e-31	3.29273e-31	0.139131	1	0
YIPF4	84272	broad.mit.edu	37	2	32523330	32523330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:32523330A>G	ENST00000238831.3	+	4	679	c.433A>G	c.(433-435)Ata>Gta	p.I145V		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	145						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACCATTTGGATATTTGGTTC	0.323000													29	47					0	0	0.111260	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499268	59499268	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:59499268C>A	ENST00000307144.4	+	1	227	c.129C>A	c.(127-129)ctC>ctA	p.L43L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	43					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCACCTGGCTCTTCACCCCCG	0.572000													29	17					5.04308e-16	6.32943e-16	0.086207	1	0
SLC35A5	55032	broad.mit.edu	37	3	112300107	112300107	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:112300107G>A	ENST00000492406.1	+	6	1426	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	381						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTCAAGTTCCGGAATACGCAC	0.468000													17	55					0	0	0.038395	0	0
TRIM11	81559	broad.mit.edu	37	1	228584717	228584717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:228584717C>A	ENST00000493030.2	-	4	4124	c.415G>T	c.(415-417)Gtt>Ttt	p.V139F	TRIM11_ENST00000366699.3_Missense_Mutation_p.V264F|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.V264F			Q96F44	TRI11_HUMAN	tripartite motif containing 11	264					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				ATAGGCACAACTTCTGGGGGC	0.637000													12	123					9.31168e-06	1.00297e-05	0.105934	1	0
TLR6	10333	broad.mit.edu	37	4	38830796	38830796	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:38830796T>A	ENST00000436693.2	-	2	418	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	TLR6_ENST00000381950.1_Missense_Mutation_p.Q100L	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	100					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTAAATCCTGGTTGAACTT	0.358000													13	51					0	0	0.105934	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255505	85255505	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:85255505C>G	ENST00000266682.5	-	12	2640	c.2099G>C	c.(2098-2100)gGa>gCa	p.G700A	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.G593A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	700					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGTTGGGGATCCACTCTGTTT	0.438000													117	59					0	0	0.139131	0	0
DNAH7	56171	broad.mit.edu	37	2	196788457	196788457	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:196788457G>A	ENST00000312428.6	-	23	3787	c.3687C>T	c.(3685-3687)tcC>tcT	p.S1229S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1229	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						GATTCTGCATGGACAATTTGC	0.388000													56	85					0	0	0.139131	0	0
ZNF521	25925	broad.mit.edu	37	18	22807254	22807254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:22807254C>A	ENST00000361524.3	-	4	776	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF521_ENST00000538137.2_Missense_Mutation_p.G210W|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	210					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACAGAAACCCACGGCGACAA	0.483000			T	PAX5	ALL								12	14					0.000151284	0.000159382	0.105934	1	0
CYP4V2	285440	broad.mit.edu	37	4	187130409	187130409	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:187130409G>T	ENST00000378802.4	+	10	1692	c.1388G>T	c.(1387-1389)gGc>gTc	p.G463V	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	463					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TTCTCTGCTGGCCCCAGGAAC	0.522000													51	94					8.81991e-31	1.30788e-30	0.139131	1	0
GPR123	84435	broad.mit.edu	37	10	134916248	134916248	+	Silent	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:134916248A>T	ENST00000607359.1	+	14	2463	c.2463A>T	c.(2461-2463)atA>atT	p.I821I	GPR123_ENST00000392607.3_Silent_p.I101I|GPR123_ENST00000392606.2_Silent_p.I4I			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	101						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCTGTGGATAGGAGTGACCG	0.637000													11	30					0	0	0.105934	0	0
LTF	4057	broad.mit.edu	37	3	46491363	46491363	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:46491363G>T	ENST00000231751.4	-	8	1333	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	LTF_ENST00000426532.2_Silent_p.A302A|LTF_ENST00000417439.1_Silent_p.A346A	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	346	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTTCTGGATGGCAGTGAAGT	0.572000													20	36					1.10513e-12	1.33666e-12	0.069288	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518865	113518865	+	Missense_Mutation	SNP	C	C	A	rs62001880	byFrequency	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:113518865C>A	ENST00000284601.3	-	4	2350	c.2282G>T	c.(2281-2283)cGa>cTa	p.R761L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	761					glycogen metabolic process	integral to membrane		p.R761Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGTCACTTCGTGCTGTCTC	0.413000													29	43					8.16721e-17	1.04012e-16	0.045705	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	44					0	0	0.021553	0	0
DST	667	broad.mit.edu	37	6	56483599	56483599	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:56483599C>G	ENST00000370765.6	-	23	5340	c.5233G>C	c.(5233-5235)Ggt>Cgt	p.G1745R	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1124					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGAATTTACCAGATTCTTCC	0.368000													82	163					0	0	0.139131	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810965	140810965	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140810965G>T	ENST00000252085.3	+	1	781	c.639G>T	c.(637-639)acG>acT	p.T213T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCCTTACGGCCTCCGACG	0.627000													44	100					1.06522e-23	1.48309e-23	0.131918	1	0
ITPR1	3708	broad.mit.edu	37	3	4704822	4704822	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:4704822G>A	ENST00000302640.8	+	15	1791	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ITPR1_ENST00000456211.2_Missense_Mutation_p.E481K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E496K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E496K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E496K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.E481K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	496					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATGTTCTCGAAGTTGTCTT	0.463000													5	43					0	0	0.029380	0	0
MOXD1	26002	broad.mit.edu	37	6	132713365	132713365	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:132713365G>T	ENST00000392401.3	-	2	386	c.338C>A	c.(337-339)gCc>gAc	p.A113D	MOXD1_ENST00000367963.3_Intron			Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	0	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCAGCAAGTGGCCCGGCAGCA	0.448000													5	3					2.0095e-06	2.21403e-06	0.029380	1	0
MUC17	140453	broad.mit.edu	37	7	100681296	100681296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:100681296C>A	ENST00000306151.4	+	3	6663	c.6599C>A	c.(6598-6600)tCa>tAa	p.S2200*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2200	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCCGTTCATCTCCTACA	0.512000													250	384					7.74488e-135	1.2948e-134	0.139131	1	0
ITGA8	8516	broad.mit.edu	37	10	15634292	15634292	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:15634292G>T	ENST00000378076.3	-	22	2576	c.2223C>A	c.(2221-2223)ggC>ggA	p.G741G		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	741					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAAATCGGAGGCCCAGGGAAT	0.378000													8	37					0.000157383	0.000165405	0.038147	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376868	149376868	+	RNA	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:149376868G>T	ENST00000415338.1	-	0	1061																											ACTGCTAGAAGAGAAGACTCT	0.502000													10	14					2.17888e-05	2.31807e-05	0.058154	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823405	38823405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr22:38823405C>T	ENST00000303592.3	-	2	991	c.733G>A	c.(733-735)Ggc>Agc	p.G245S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	245					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGTCATAGCCCACGTTGAGG	0.622000													15	50					0	0	0.033300	0	0
COL17A1	1308	broad.mit.edu	37	10	105801268	105801268	+	Silent	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:105801268G>C	ENST00000353479.5	-	37	2870	c.2580C>G	c.(2578-2580)ggC>ggG	p.G860G	COL17A1_ENST00000369733.3_Silent_p.G860G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	860	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCCGGGTGGGCCTGGGGGAC	0.522000													5	14					0	0	0.038147	0	0
CACNA1C	775	broad.mit.edu	37	12	2224520	2224520	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:2224520G>T	ENST00000399655.1	+	2	445	c.180G>T	c.(178-180)cgG>cgT	p.R60R	CACNA1C_ENST00000347598.4_Silent_p.R60R|CACNA1C_ENST00000327702.7_Silent_p.R60R|CACNA1C_ENST00000335762.5_Silent_p.R60R|CACNA1C_ENST00000399638.1_Silent_p.R60R|CACNA1C_ENST00000399649.1_Silent_p.R60R|CACNA1C_ENST00000399641.1_Silent_p.R60R|CACNA1C_ENST00000344100.3_Silent_p.R60R|CACNA1C_ENST00000399595.1_Silent_p.R60R|CACNA1C_ENST00000399634.1_Silent_p.R60R|CACNA1C_ENST00000480911.1_Silent_p.R60R|CACNA1C_ENST00000399629.1_Silent_p.R60R|CACNA1C_ENST00000399603.1_Silent_p.R60R|CACNA1C_ENST00000399601.1_Silent_p.R60R|CACNA1C_ENST00000399644.1_Silent_p.R60R|CACNA1C_ENST00000399617.1_Silent_p.R60R|CACNA1C_ENST00000399621.1_Silent_p.R60R|CACNA1C_ENST00000402845.3_Silent_p.R60R|CACNA1C_ENST00000399606.1_Silent_p.R60R|CACNA1C_ENST00000406454.3_Silent_p.R60R|CACNA1C_ENST00000399637.1_Silent_p.R60R|CACNA1C_ENST00000399597.1_Silent_p.R60R|CACNA1C_ENST00000399591.1_Silent_p.R60R	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	60					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)	ACGCAGCCCGGCAGGCTAAGC	0.657000													6	2					0.0215528	0.0219069	0.021553	1	0
GRIK5	2901	broad.mit.edu	37	19	42569487	42569487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:42569487C>A	ENST00000262895.3	-	2	131	c.132G>T	c.(130-132)ttG>ttT	p.L44F	GRIK5_ENST00000593562.1_Missense_Mutation_p.L44F|GRIK5_ENST00000301218.4_Missense_Mutation_p.L44F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	44						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGGCCAAGGCCAAGGCCAGAC	0.607000													11	64					2.61681e-11	3.12143e-11	0.119110	1	0
NPHS1	4868	broad.mit.edu	37	19	36322237	36322237	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:36322237C>A	ENST00000378910.5	-	26	3347	c.3348G>T	c.(3346-3348)gaG>gaT	p.E1116D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1076D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1116					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)			TCCACTGGCTCTCCTCATATT	0.632000													62	67					3.12118e-38	4.84399e-38	0.139131	1	0
MYBPC3	4607	broad.mit.edu	37	11	47355473	47355473	+	Splice_Site	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:47355473C>G	ENST00000399249.2	-	27	3048	c.2994_splice	c.e27+1	p.Q998_splice	MYBPC3_ENST00000256993.4_Splice_Site_p.Q997_splice|MYBPC3_ENST00000545968.1_Splice_Site_p.Q998_splice			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	997	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCAGTCCCACCTGGAAAGGGA	0.597000													4	5					0	0	0.014758	0	0
ZNF382	84911	broad.mit.edu	37	19	37117290	37117290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:37117290G>T	ENST00000435416.1	+	3	1983	c.488G>T	c.(487-489)aGt>aTt	p.S163I	ZNF382_ENST00000439428.1_Missense_Mutation_p.S163I|ZNF382_ENST00000292928.2_Missense_Mutation_p.S164I|ZNF382_ENST00000423582.1_Missense_Mutation_p.S115I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	164	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTGGTGACAGTACTGGATGG	0.348000													80	123					4.18329e-38	6.46916e-38	0.139131	1	0
UBR7	55148	broad.mit.edu	37	14	93685632	93685632	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:93685632G>C	ENST00000013070.6	+	8	1121	c.885G>C	c.(883-885)caG>caC	p.Q295H	UBR7_ENST00000416753.1_Missense_Mutation_p.Q219H	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	295							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGCTAAGCAGCTTATAAAGA	0.413000													15	27					0	0	0.038395	0	0
NPY5R	4889	broad.mit.edu	37	4	164272515	164272515	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:164272515C>A	ENST00000515560.1	+	4	2612	c.1090C>A	c.(1090-1092)Cga>Aga	p.R364R	NPY5R_ENST00000338566.3_Silent_p.R364R|NPY5R_ENST00000506953.1_Silent_p.R364R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	364					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.R364G(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAGAGATCTCGAAGTGTTTT	0.363000													31	43					7.61165e-28	1.09862e-27	0.064281	1	0
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438000													4	359					0	0	0.029380	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390156	150390156	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:150390156G>T	ENST00000223293.5	+	3	876	c.782G>T	c.(781-783)tGc>tTc	p.C261F		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	261						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCAAACTGCCTAAAAGGA	0.388000													10	28					0.000442599	0.000458482	0.058154	1	0
NRXN1	9378	broad.mit.edu	37	2	51254811	51254811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:51254811C>T	ENST00000404971.1	-	2	1940	c.601G>A	c.(601-603)Gag>Aag	p.E201K	NRXN1_ENST00000405472.3_Missense_Mutation_p.E201K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E201K|NRXN1_ENST00000405581.1_Missense_Mutation_p.E201K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E201K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E201K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E201K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	201	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTTCACCTCGCCGCTGTCC	0.697000													4	15					0	0	0.021553	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410795	153410795	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:153410795G>T	ENST00000368725.2	-	2	43	c.44C>A	c.(43-45)cCt>cAt	p.P15H		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCACCTAGAGGGATATTCAT	0.398000													30	82					5.71845e-15	7.09481e-15	0.080422	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994193	140994193	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:140994193C>A	ENST00000285879.4	+	4	1289	c.1003C>A	c.(1003-1005)Cag>Aag	p.Q335K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCTTCT	0.458000										HNSCC(15;0.026)			100	49					4.4634e-40	7.02783e-40	0.139131	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130791538	130791538	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:130791538G>A	ENST00000509018.1	-	20	3237	c.3032C>T	c.(3031-3033)cCa>cTa	p.P1011L	FNIP1_ENST00000514667.1_Missense_Mutation_p.P1061L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.P726L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.P1016L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1011	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)		AGGGAAGAGTGGAATAATTGG	0.323000													33	89					0	0	0.092188	0	0
PARD3B	117583	broad.mit.edu	37	2	206165336	206165336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:206165336G>T	ENST00000406610.2	+	17	2475	c.2268G>T	c.(2266-2268)gaG>gaT	p.E756D	PARD3B_ENST00000358768.2_Missense_Mutation_p.E694D|PARD3B_ENST00000349953.3_Missense_Mutation_p.E756D|PARD3B_ENST00000462231.1_Missense_Mutation_p.E756D|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	756					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGTGGCCGAGGTCAGGAAGA	0.522000													53	86					1.59911e-31	2.38764e-31	0.139131	1	0
CCDC67	159989	broad.mit.edu	37	11	93118567	93118567	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:93118567A>G	ENST00000298050.3	+	8	893	c.793A>G	c.(793-795)Atg>Gtg	p.M265V	CCDC67_ENST00000525646.1_Missense_Mutation_p.M7V	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	265										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TATTCAGGCCATGGAAGCAGG	0.318000													14	24					0	0	0.062417	0	0
GJA1	2697	broad.mit.edu	37	6	121769134	121769134	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:121769134G>A	ENST00000282561.3	+	2	1298	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	381					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGATGACCTGGAGATCTAGAT	0.498000													17	63					0	0	0.069288	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339574	73339574	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:73339574G>A	ENST00000258098.6	-	1	572	c.332C>T	c.(331-333)aCc>aTc	p.T111I		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	111	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GTGCATGGTGGTGAGCACCAG	0.771000													12	7					0	0	0.093190	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137352	32137352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:32137352G>T	ENST00000312561.4	+	4	3877	c.3463G>T	c.(3463-3465)Gga>Tga	p.G1155*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACCTGCAGCTGGACAAAGTCG	0.498000													72	51					9.04243e-43	1.43948e-42	0.139131	1	0
ZNF142	7701	broad.mit.edu	37	2	219508688	219508688	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:219508688G>A	ENST00000411696.2	-	7	3330	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L	ZNF142_ENST00000449707.1_Silent_p.L851L			P52746	ZN142_HUMAN	zinc finger protein 142	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGATTCAGGGCCTTCTCC	0.642000													26	85					0	0	0.099896	0	0
POTEE	445582	broad.mit.edu	37	2	131984420	131984420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:131984420G>T	ENST00000356920.5	+	4	929	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G289C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	279							ATP binding	p.G289C(1)|p.G279C(1)									ACTGTTACTTGGTGTACATGA	0.323000													27	170					2.35958e-20	3.16316e-20	0.111260	1	0
PAK3	5063	broad.mit.edu	37	X	110385361	110385361	+	Silent	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:110385361T>C	ENST00000519681.1	+	6	655	c.213T>C	c.(211-213)tcT>tcC	p.S71S	PAK3_ENST00000360648.4_Silent_p.S71S|PAK3_ENST00000518291.1_Silent_p.S71S|PAK3_ENST00000372010.1_Silent_p.S71S|PAK3_ENST00000372007.4_Silent_p.S71S|PAK3_ENST00000417227.1_Silent_p.S71S|PAK3_ENST00000262836.4_Silent_p.S71S|PAK3_ENST00000425146.1_Silent_p.S71S|PAK3_ENST00000446737.1_Silent_p.S71S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	71	Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGAGATCTCTCTTCCTTCAG	0.413000										TSP Lung(19;0.15)			110	43					0	0	0.139131	0	0
MECOM	2122	broad.mit.edu	37	3	168818745	168818745	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:168818745C>G	ENST00000464456.1	-	10	3386	c.2186G>C	c.(2185-2187)tGt>tCt	p.C729S	MECOM_ENST00000460814.1_Missense_Mutation_p.C729S|MECOM_ENST00000468789.1_Missense_Mutation_p.C738S|MECOM_ENST00000433243.2_Missense_Mutation_p.C739S|MECOM_ENST00000472280.1_Missense_Mutation_p.C739S|MECOM_ENST00000264674.3_Missense_Mutation_p.C803S|MECOM_ENST00000392736.3_Missense_Mutation_p.C738S|MECOM_ENST00000494292.1_Missense_Mutation_p.C917S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AATCTTGCCACAGTATCTGTT	0.403000													21	72					0	0	0.116897	0	0
DAAM2	23500	broad.mit.edu	37	6	39832223	39832223	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:39832223C>T	ENST00000538976.1	+	4	455	c.273C>T	c.(271-273)ccC>ccT	p.P91P	DAAM2_ENST00000398904.2_Silent_p.P91P|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Silent_p.P91P	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	91	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGAGGACCCCAACAAGCTGG	0.582000													10	24					0	0	0.093190	0	0
SCAND3	114821	broad.mit.edu	37	6	28540252	28540252	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:28540252C>A	ENST00000452236.2	-	4	4031	c.3414G>T	c.(3412-3414)caG>caT	p.Q1138H		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1138					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cttctaacttctgtttttgtc	0.294000													34	76					6.33695e-27	9.02598e-27	0.098360	1	0
CLEC5A	23601	broad.mit.edu	37	7	141629976	141629976	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:141629976G>A	ENST00000546910.1	-	7	691	c.495C>T	c.(493-495)ggC>ggT	p.G165G	MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.G142G|CLEC5A_ENST00000439991.1_Silent_p.G61G	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	165	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCTTTGTTAGGCCAATGGTCG	0.383000													26	101					0	0	0.069456	0	0
ITPR3	3710	broad.mit.edu	37	6	33630399	33630399	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:33630399T>A	ENST00000374316.5	+	9	1866	c.806T>A	c.(805-807)cTg>cAg	p.L269Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.L269Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	269	Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGAACTACACTGCGCCAGTCT	0.612000													26	56					0	0	0.054565	0	0
OR9G1	390174	broad.mit.edu	37	11	56468283	56468283	+	Silent	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:56468283T>C	ENST00000312153.1	+	1	420	c.420T>C	c.(418-420)tgT>tgC	p.C140C		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TAAAGCTGTGTGCATTGCTGG	0.478000													34	135					0	0	0.111260	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696293	60696293	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:60696293G>T	ENST00000005286.4	+	4	880	c.727G>T	c.(727-729)Gac>Tac	p.D243Y	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D243Y	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	243						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGCCCAGCAGACCCCCCGCA	0.692000													9	29					7.48243e-07	8.3935e-07	0.058154	1	0
UNC79	57578	broad.mit.edu	37	14	94004462	94004462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:94004462G>T	ENST00000553484.1	+	12	1404	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	UNC79_ENST00000256339.4_Missense_Mutation_p.G240V|UNC79_ENST00000555664.1_Missense_Mutation_p.G417V|UNC79_ENST00000393151.2_Missense_Mutation_p.G417V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	417						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATGAAGTGGGGGCCGCTGCG	0.597000													25	43					1.32181e-22	1.82275e-22	0.125774	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603146	140603146	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140603146G>T	ENST00000239449.4	+	1	69	c.69G>T	c.(67-69)ttG>ttT	p.L23F	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGGATTGTCTCGGGCAG	0.483000													34	28					9.17885e-22	1.24982e-21	0.059317	1	0
CHRNA1	1134	broad.mit.edu	37	2	175629093	175629093	+	Silent	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:175629093A>G	ENST00000348749.5	-	1	107	c.30T>C	c.(28-30)ttT>ttC	p.F10F	CHRNA1_ENST00000409542.1_Silent_p.F10F|CHRNA1_ENST00000409219.1_Silent_p.F10F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Silent_p.F10F|CHRNA1_ENST00000261007.5_Silent_p.F10F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	10					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						AGCAAAGGCTAAAGAGCAGGA	0.592000													14	19					0	0	0.146539	0	0
ABCC4	10257	broad.mit.edu	37	13	95725508	95725508	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr13:95725508T>A	ENST00000376887.4	-	24	3082	c.2968A>T	c.(2968-2970)Atg>Ttg	p.M990L	ABCC4_ENST00000412704.1_Missense_Mutation_p.M943L|ABCC4_ENST00000474158.1_5'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	990	ABC transmembrane type-1 2.				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)	AACATCCCCATGAGCGTGAGG	0.453000													40	34					0	0	0.139131	0	0
BICC1	80114	broad.mit.edu	37	10	60580187	60580187	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:60580187C>G	ENST00000373886.3	+	20	2757	c.2753C>G	c.(2752-2754)aCt>aGt	p.T918S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	918	SAM.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTGGGAATAACTACTTTTGGT	0.388000													4	81					0	0	0.021553	0	0
DOK5	55816	broad.mit.edu	37	20	53208292	53208292	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:53208292G>A	ENST00000262593.5	+	5	897	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DOK5_ENST00000395939.1_Missense_Mutation_p.A75T	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	183	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCCGCTAAGCGCCCTGCGGCG	0.458000													43	67					0	0	0.139131	0	0
OR4C15	81309	broad.mit.edu	37	11	55322040	55322040	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:55322040C>A	ENST00000314644.2	+	1	258	c.258C>A	c.(256-258)gtC>gtA	p.V86V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V86V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTGTTTGTCTACATTGCAA	0.413000										HNSCC(20;0.049)			70	88					5.02053e-37	7.73626e-37	0.139131	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595284	140595284	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140595284G>A	ENST00000341948.4	+	1	1776	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCAGTTCCGCGTGGGCGCT	0.672000													24	125					0	0	0.083992	0	0
TENM2	57451	broad.mit.edu	37	5	167674960	167674960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:167674960C>G	ENST00000519204.1	+	26	6771	c.6653C>G	c.(6652-6654)tCc>tGc	p.S2218C	TENM2_ENST00000520394.1_Missense_Mutation_p.S2100C|TENM2_ENST00000518659.1_Missense_Mutation_p.S2339C|TENM2_ENST00000403607.2_Missense_Mutation_p.S2163C|TENM2_ENST00000545108.1_Missense_Mutation_p.S2338C					teneurin transmembrane protein 2																		TACAATCACTCCAACTCGGAG	0.557000													23	159					0	0	0.076483	0	0
NPC1	4864	broad.mit.edu	37	18	21120446	21120446	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:21120446T>A	ENST00000269228.5	-	17	3124	c.2570A>T	c.(2569-2571)gAt>gTt	p.D857V	NPC1_ENST00000412552.2_Missense_Mutation_p.D539V|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	857					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAATCCAATATCTACTTTGTT	0.333000													31	20					0	0	0.104719	0	0
ZNF496	84838	broad.mit.edu	37	1	247492785	247492785	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:247492785C>T	ENST00000294753.4	-	3	560	c.96G>A	c.(94-96)caG>caA	p.Q32Q	ZNF496_ENST00000366498.2_Silent_p.Q32Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	32					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAAGCTCCCCCTGGGGGCTAG	0.687000													47	25					0	0	0.139131	0	0
PRG4	10216	broad.mit.edu	37	1	186276227	186276227	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:186276227C>A	ENST00000445192.2	+	7	1421	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	PRG4_ENST00000367485.4_Missense_Mutation_p.P366H|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P418H|PRG4_ENST00000367486.3_Missense_Mutation_p.P416H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	459	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAAGGAGCCTACACCCACC	0.652000													15	86					1.40151e-16	1.77443e-16	0.055883	1	0
ZNF25	219749	broad.mit.edu	37	10	38242683	38242683	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:38242683T>C	ENST00000302609.7	-	5	454	c.242A>G	c.(241-243)gAc>gGc	p.D81G	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	81			D -> G (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D81G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GCTCCATAGGTCTTCTACAAG	0.328000													28	31					0	0	0.069456	0	0
EPRS	2058	broad.mit.edu	37	1	220154793	220154793	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:220154793T>C	ENST00000366923.3	-	24	3649	c.3380A>G	c.(3379-3381)tAt>tGt	p.Y1127C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1127	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATATGCAGGATACATTACTGA	0.408000													9	119					0	0	0.093190	0	0
PNKP	11284	broad.mit.edu	37	19	50364720	50364720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:50364720G>C	ENST00000600910.1	-	15	1423	c.1324C>G	c.(1324-1326)Cat>Gat	p.H442D	PNKP_ENST00000596014.1_Silent_p.V478V|PNKP_ENST00000322344.3_Silent_p.V478V|PNKP_ENST00000600573.1_Silent_p.V447V			Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	0					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGCCATACATGACCATGTCTG	0.617000								Other BER factors					45	147					0	0	0.139131	0	0
ESR2	2100	broad.mit.edu	37	14	64727365	64727365	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:64727365C>T	ENST00000557772.1	-	4	753	c.754G>A	c.(754-756)Gcg>Acg	p.A252T	ESR2_ENST00000357782.2_Missense_Mutation_p.A252T|ESR2_ENST00000353772.3_Missense_Mutation_p.A252T|ESR2_ENST00000358599.5_Missense_Mutation_p.A252T|ESR2_ENST00000341099.4_Missense_Mutation_p.A252T|ESR2_ENST00000555278.1_Missense_Mutation_p.A252T|ESR2_ENST00000554572.1_Missense_Mutation_p.A252T|ESR2_ENST00000553796.1_Missense_Mutation_p.A252T|ESR2_ENST00000542956.1_Missense_Mutation_p.A252T|ESR2_ENST00000267525.6_Missense_Mutation_p.A252T|ESR2_ENST00000555483.1_5'UTR	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	252	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACTCGGGGCGCGTGGCCGCCA	0.682000													7	27					0	0	0.029380	0	0
LRP1B	53353	broad.mit.edu	37	2	141027839	141027839	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:141027839C>G	ENST00000389484.3	-	86	14190	c.13219G>C	c.(13219-13221)Gac>Cac	p.D4407H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4407	EGF-like 14.				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)		GTCTCGGGGTCCAGCTGGCAT	0.403000										TSP Lung(27;0.18)			44	100					0	0	0.139131	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541263	178541263	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:178541263A>T	ENST00000251582.7	-	22	3342	c.3241T>A	c.(3241-3243)Tcc>Acc	p.S1081T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1081	PLAC.				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)		CCTGGGATGGAGCAATAGCGG	0.507000													14	79					0	0	0.033300	0	0
GCKR	2646	broad.mit.edu	37	2	27722027	27722027	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:27722027G>A	ENST00000264717.2	+	6	510	c.447G>A	c.(445-447)agG>agA	p.R149R	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	149	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGCCTCTAGGGAGGGGACAG	0.502000													27	35					0	0	0.074837	0	0
TTN	7273	broad.mit.edu	37	2	179396767	179396767	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:179396767G>A	ENST00000589042.1	-	358	104799	c.104575C>T	c.(104575-104577)Cgg>Tgg	p.R34859W	TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25919W|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25794W|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33218W|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25986W|TTN_ENST00000342992.6_Missense_Mutation_p.R32291W|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33218							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)			GGACGTGACCGGATCAGCTCA	0.522000													3	59					0	0	0.115264	0	0
COL5A3	50509	broad.mit.edu	37	19	10099827	10099827	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:10099827C>A	ENST00000264828.3	-	27	2203	c.2118G>T	c.(2116-2118)ccG>ccT	p.P706P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	706	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGATAGCCCGGAGGGCCTG	0.547000													37	51					4.10826e-27	5.87088e-27	0.139131	1	0
PPT1	5538	broad.mit.edu	37	1	40539814	40539814	+	Silent	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:40539814T>A	ENST00000433473.3	-	9	1304	c.840A>T	c.(838-840)ctA>ctT	p.L280L	PPT1_ENST00000530076.1_Silent_p.L61L|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Silent_p.L177L	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	280					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAACACTAGCTGTCCTG	0.423000													19	71					0	0	0.062417	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733939	28733939	+	RNA	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:28733939G>A	ENST00000550043.1	+	0	344																											GTAGCTCCAAGAGTTCTCACT	0.488000													22	81					0	0	0.108266	0	0
ROPN1L	83853	broad.mit.edu	37	5	10450214	10450214	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:10450214A>T	ENST00000503804.1	+	4	927	c.406A>T	c.(406-408)Atg>Ttg	p.M136L	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.M136L			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	136					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TGGATGCAGCATGCTTGGTGG	0.378000													60	125					0	0	0.139131	0	0
ABCA3	21	broad.mit.edu	37	16	2354054	2354054	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:2354054C>T	ENST00000301732.5	-	12	2083	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	ABCA3_ENST00000382381.3_Silent_p.V403V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	461					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)				GGCCATAGAGCACAGAGTCCA	0.612000													35	332					0	0	0.124865	0	0
CSPG4	1464	broad.mit.edu	37	15	75981600	75981600	+	Silent	SNP	G	G	T	rs112532713		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:75981600G>T	ENST00000308508.5	-	3	1898	c.1806C>A	c.(1804-1806)ccC>ccA	p.P602P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	602	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGCGCTCCACGGGGAGGCCAG	0.682000													11	24					6.40141e-05	6.76051e-05	0.080935	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965844	35965844	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:35965844C>T	ENST00000274278.3	-	4	844	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	UGT3A1_ENST00000333811.4_Missense_Mutation_p.V109M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V163M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V129M	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	163						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAATGGCCACAAATGGTTTC	0.413000													29	43					0	0	0.144211	0	0
ZNF730	100129543	broad.mit.edu	37	19	23316881	23316881	+	Splice_Site	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:23316881G>T	ENST00000597761.2	+	2	202		c.e2-1		ZNF730_ENST00000593635.1_Splice_Site	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTGTTTTTCAGGGAGCGTTGA	0.378000													12	69					2.32078e-09	2.67973e-09	0.132662	1	0
NPC1L1	29881	broad.mit.edu	37	7	44578734	44578734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:44578734C>A	ENST00000289547.4	-	2	1317	c.1262G>T	c.(1261-1263)aGg>aTg	p.R421M	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R421M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R421M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R421M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	421					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAGTCATACCTGTAGCTGGA	0.592000													6	95					0.00307968	0.003175	0.038147	1	0
BAAT	570	broad.mit.edu	37	9	104133595	104133595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr9:104133595C>T	ENST00000259407.2	-	2	200	c.92G>A	c.(91-93)aGt>aAt	p.S31N	BAAT_ENST00000395051.3_Missense_Mutation_p.S31N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	31					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGCCTGAAAACTCACCATCTG	0.458000													11	117					0	0	0.093190	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48955836	48955836	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:48955836G>A	ENST00000408959.2	-	1	982	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		GGAGAACTGCGCGGCGAACGA	0.577000													42	61					0	0	0.139131	0	0
TMEM143	55260	broad.mit.edu	37	19	48836552	48836552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:48836552C>T	ENST00000293261.3	-	8	1620	c.1304G>A	c.(1303-1305)gGt>gAt	p.G435D	TMEM143_ENST00000541566.1_Missense_Mutation_p.G325D|TMEM143_ENST00000436660.2_Missense_Mutation_p.G370D|TMEM143_ENST00000435956.3_Missense_Mutation_p.G400D|TMEM143_ENST00000377431.2_Missense_Mutation_p.G335D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	435						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTTGGGGAAACCCGGGGGTGG	0.622000													19	66					0	0	0.049695	0	0
ABCB5	340273	broad.mit.edu	37	7	20698692	20698692	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:20698692A>T	ENST00000443026.2	+	6	922	c.376A>T	c.(376-378)Acc>Tcc	p.T126S	ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000258738.6_Intron	NM_001163942.1	NP_001157414.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	0	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTTTAGGATACCCCCAGGTA	0.488000													75	115					0	0	0.139131	0	0
UNC80	285175	broad.mit.edu	37	2	210658455	210658455	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:210658455G>A	ENST00000439458.1	+	7	890	c.810G>A	c.(808-810)gtG>gtA	p.V270V	UNC80_ENST00000272845.5_Silent_p.V270V|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	270						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GACTCCAGGTGGTTTGTGAAA	0.428000													44	90					0	0	0.139131	0	0
CDC20B	166979	broad.mit.edu	37	5	54420695	54420695	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:54420695T>C	ENST00000296733.1	-	9	1325	c.1151A>G	c.(1150-1152)cAc>cGc	p.H384R	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.H384R|CDC20B_ENST00000322374.6_Missense_Mutation_p.H384R	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	384										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACCTGGATCGTGGGGCCATAT	0.537000													43	81					0	0	0.139131	0	0
PRKCB	5579	broad.mit.edu	37	16	24183630	24183630	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:24183630G>C	ENST00000303531.7	+	11	1431	c.1279G>C	c.(1279-1281)Gac>Cac	p.D427H	PRKCB_ENST00000321728.7_Missense_Mutation_p.D427H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	427	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAATGGGGGCGACCTCATGTA	0.527000													7	42					0	0	0.038147	0	0
CSMD1	64478	broad.mit.edu	37	8	2813174	2813174	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:2813174C>G	ENST00000602557.1	-	65	10489	c.9934G>C	c.(9934-9936)Gga>Cga	p.G3312R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3135R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3311R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3134R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3312R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3135R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3312	Sushi 28.		G -> W (in dbSNP:rs34079122).			integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTCAGATCCCCCTGCGAGG	0.493000													32	28					0	0	0.064281	0	0
SYT6	148281	broad.mit.edu	37	1	114646279	114646279	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:114646279G>T	ENST00000393296.1	-	4	1213	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N	SYT6_ENST00000369547.1_Missense_Mutation_p.T294N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	379	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTGTGAGGGTGAGCCTGCC	0.542000													32	38					6.97489e-18	9.04229e-18	0.074837	1	0
THBS3	7059	broad.mit.edu	37	1	155173313	155173313	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:155173313A>T	ENST00000368378.3	-	5	684	c.664T>A	c.(664-666)Tcc>Acc	p.S222T	THBS3_ENST00000428962.2_Missense_Mutation_p.S102T|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.S102T|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	222					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTAGAATGGAGTGCAGTGCA	0.562000													8	36					0	0	0.093190	0	0
KCNB1	3745	broad.mit.edu	37	20	47989745	47989745	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:47989745C>T	ENST00000371741.4	-	2	2518	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	784					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTGAACTTCGGACTGGTGC	0.532000													7	566					0	0	0.058154	0	0
FNIP2	57600	broad.mit.edu	37	4	159789520	159789520	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:159789520C>G	ENST00000264433.6	+	13	1807	c.1732C>G	c.(1732-1734)Ctt>Gtt	p.L578V	FNIP2_ENST00000379346.3_Missense_Mutation_p.L601V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	578	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGAGCCCGCTCTTGTACCCCC	0.547000													21	52					0	0	0.099896	0	0
BOLA1	51027	broad.mit.edu	37	1	149871659	149871659	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:149871659G>A	ENST00000369153.2	+	3	711	c.47G>A	c.(46-48)cGc>cAc	p.R16H	BOLA1_ENST00000476344.1_Intron|BOLA1_ENST00000369152.5_Missense_Mutation_p.R16H|BOLA1_ENST00000369150.1_Missense_Mutation_p.R16H			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	16						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ATGGCTGGCCGCGTTTGTTTG	0.687000													40	33					0	0	0.131918	0	0
LILRB1	10859	broad.mit.edu	37	19	55143550	55143550	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:55143550C>A	ENST00000396331.1	+	6	880	c.523C>A	c.(523-525)Cgt>Agt	p.R175S	LILRB1_ENST00000396327.3_Missense_Mutation_p.R175S|LILRB1_ENST00000427581.2_Missense_Mutation_p.R211S|LILRB1_ENST00000396321.2_Missense_Mutation_p.R175S|LILRB1_ENST00000396315.1_Missense_Mutation_p.R175S|LILRB1_ENST00000396332.4_Missense_Mutation_p.R175S|LILRB1_ENST00000434867.2_Missense_Mutation_p.R175S|LILRB1_ENST00000418536.2_Missense_Mutation_p.R175S|LILRB1_ENST00000324602.7_Missense_Mutation_p.R175S|LILRB1_ENST00000448689.1_Missense_Mutation_p.R175S|LILRB1_ENST00000396317.1_Missense_Mutation_p.R175S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	175	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCCATGCCCGTGGGTCGTC	0.572000										HNSCC(37;0.09)			32	139					2.66277e-13	3.2387e-13	0.092188	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686396	108686396	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:108686396C>A	ENST00000312143.7	-	3	707	c.344G>T	c.(343-345)aGc>aTc	p.S115I	CMKLR1_ENST00000550402.1_Missense_Mutation_p.S115I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S115I|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S113I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S113I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	115					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGGAAGTTGCTGATCTTGCA	0.537000													49	28					8.94452e-30	1.31287e-29	0.139131	1	0
SNTG1	54212	broad.mit.edu	37	8	51621467	51621467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:51621467C>A	ENST00000522124.1	+	17	1874	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L405I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L405I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L405I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	405					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCATGTGTGCTAGAAAGTCA	0.368000													61	94					1.45978e-39	2.29016e-39	0.139131	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966197	41966197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:41966197C>A	ENST00000298919.7	+	10	1224	c.836C>A	c.(835-837)aCa>aAa	p.T279K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.T539K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T281K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	539	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGCACAACAGACACTGCA	0.373000													24	32					6.00712e-18	7.83459e-18	0.050027	1	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349644	38349644	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:38349644C>A	ENST00000436615.3	+	14	1711	c.1221C>A	c.(1219-1221)atC>atA	p.I407I	RAPGEFL1_ENST00000544503.1_Silent_p.I456I|RAPGEFL1_ENST00000264644.6_Silent_p.I407I|RAPGEFL1_ENST00000456989.2_Silent_p.I462I	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	613					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGAGGACAATCCGCAAATACC	0.557000													74	129					2.4313e-29	3.5566e-29	0.139131	1	0
NR2C2	7182	broad.mit.edu	37	3	15057667	15057667	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:15057667G>T	ENST00000425241.1	+	4	644	c.282G>T	c.(280-282)acG>acT	p.T94T	NR2C2_ENST00000393102.3_Silent_p.T94T|NR2C2_ENST00000323373.6_Silent_p.T113T|NR2C2_ENST00000406272.2_Silent_p.T94T			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	94					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGATTGTCACGGATTCTGCCT	0.537000													3	99					0.000602214	0.000622336	0.014758	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770444	31770444	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:31770444C>A	ENST00000240587.4	-	2	582	c.255G>T	c.(253-255)atG>atT	p.M85I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	85					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAAAGTCAGCCATTCGGTCAC	0.577000													17	24					5.35267e-07	6.03569e-07	0.043863	1	0
CAMLG	819	broad.mit.edu	37	5	134076988	134076988	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:134076988A>C	ENST00000297156.2	+	2	528	c.408A>C	c.(406-408)agA>agC	p.R136S	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	136					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGCGGAACAGAGGGGACCTGA	0.542000													35	32					0	0	0.086207	0	0
MDGA2	161357	broad.mit.edu	37	14	47600917	47600917	+	Splice_Site	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:47600917C>G	ENST00000426342.1	-	5	777	c.31_splice	c.e5+1	p.A11_splice	MDGA2_ENST00000439988.2_Splice_Site_p.A240_splice|MDGA2_ENST00000357362.3_Splice_Site_p.A11_splice|MDGA2_ENST00000399232.2_Splice_Site_p.A309_splice	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	240					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATTCCATACCTGTTTTATTG	0.328000													44	71					0	0	0.139131	0	0
HEATR1	55127	broad.mit.edu	37	1	236751265	236751265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:236751265C>A	ENST00000366582.3	-	13	1723	c.1609G>T	c.(1609-1611)Gct>Tct	p.A537S	HEATR1_ENST00000366581.2_Missense_Mutation_p.A537S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	537					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACTTATAGCCGACAAAACA	0.353000													33	88					1.07121e-22	1.48189e-22	0.092188	1	0
SMPD4	55627	broad.mit.edu	37	2	130931133	130931133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:130931133C>T	ENST00000409031.1	-	4	1488	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.V114M|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.R26H|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	75					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACAGGATTCACGCGCCCCTGT	0.552000													3	80					0	0	0.115264	0	0
SDAD1	55153	broad.mit.edu	37	4	76881291	76881291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:76881291C>A	ENST00000356260.5	-	17	1529	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y	SDAD1_ENST00000395711.4_Missense_Mutation_p.D434Y|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	471					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTTAGCATCTAATTCTCCA	0.348000													12	21					5.50884e-06	5.94844e-06	0.093190	1	0
EDIL3	10085	broad.mit.edu	37	5	83433076	83433076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:83433076C>T	ENST00000296591.5	-	5	870	c.452G>A	c.(451-453)gGa>gAa	p.G151E	EDIL3_ENST00000380138.3_Missense_Mutation_p.G141E	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	151	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ACAATTTCTTCCCATAAATTC	0.388000													4	178					0	0	0.009096	0	0
NFRKB	4798	broad.mit.edu	37	11	129739400	129739400	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:129739400T>G	ENST00000446488.3	-	23	3623	c.3520A>C	c.(3520-3522)Acg>Ccg	p.T1174P	NFRKB_ENST00000524794.1_Missense_Mutation_p.T1199P|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1174P|NFRKB_ENST00000304521.5_Missense_Mutation_p.T1174P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1174					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCCTGGGACGTGGACACAACC	0.537000													13	65					0	0	0.146539	0	0
C1orf106	55765	broad.mit.edu	37	1	200882703	200882703	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:200882703G>T	ENST00000367342.4	+	10	2138	c.1938G>T	c.(1936-1938)ggG>ggT	p.G646G	C1orf106_ENST00000413687.2_Silent_p.G561G|C1orf106_ENST00000465162.1_3'UTR	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	646										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CGCCTGATGGGGCCCCTGTGC	0.557000													21	96					1.5548e-18	2.05253e-18	0.108266	1	0
RORB	6096	broad.mit.edu	37	9	77286764	77286764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr9:77286764G>C	ENST00000376896.2	+	9	1783	c.1171G>C	c.(1171-1173)Gca>Cca	p.A391P	RORB_ENST00000396204.2_Missense_Mutation_p.A402P	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	402	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A391S(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AATTTATTTTGCACTTCAACA	0.448000													18	17					0	0	0.069288	0	0
CPS1	1373	broad.mit.edu	37	2	211460216	211460216	+	Silent	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:211460216C>G	ENST00000233072.5	+	13	1465	c.1269C>G	c.(1267-1269)tcC>tcG	p.S423S	CPS1_ENST00000430249.2_Silent_p.S429S|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	423					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATAGGTTTCCAAAGTCCTTA	0.393000													56	117					0	0	0.139131	0	0
CACNA1E	777	broad.mit.edu	37	1	181745315	181745315	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:181745315C>G	ENST00000526775.1	+	37	5326	c.5161C>G	c.(5161-5163)Cac>Gac	p.H1721D	CACNA1E_ENST00000367573.2_Missense_Mutation_p.H1740D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.H1347D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H1740D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H1672D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H1691D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H1721D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1740					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGGCCTCACCACTTGGACGA	0.602000													32	211					0	0	0.054565	0	0
TARS	6897	broad.mit.edu	37	5	33461811	33461811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:33461811G>A	ENST00000265112.3	+	14	1902	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	TARS_ENST00000414361.2_Missense_Mutation_p.E410K|TARS_ENST00000455217.2_Missense_Mutation_p.E564K|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.E531K|TARS_ENST00000541634.1_Missense_Mutation_p.E427K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	531					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAAAAGTGGGAGTTAAACTC	0.358000													40	103					0	0	0.139131	0	0
CR2	1380	broad.mit.edu	37	1	207658875	207658875	+	Silent	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:207658875T>A	ENST00000367057.3	+	19	3444	c.3255T>A	c.(3253-3255)gtT>gtA	p.V1085V	CR2_ENST00000367059.3_Silent_p.V964V|CR2_ENST00000367058.3_Silent_p.V1026V|CR2_ENST00000458541.2_Silent_p.V999V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	1026					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TATATTCTGTTGATCCATACA	0.303000													54	57					0	0	0.139131	0	0
GBP5	115362	broad.mit.edu	37	1	89728006	89728006	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:89728006A>T	ENST00000343435.5	-	11	2080	c.1544T>A	c.(1543-1545)aTg>aAg	p.M515K	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.M515K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	515						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCTCTCCTGCATCATTTGCTC	0.463000													30	86					0	0	0.125774	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746577	77746577	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:77746577G>T	ENST00000409088.3	-	3	832	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L140I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L140I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L141I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L141I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	140						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTAGGAGAGGTCCAGATTG	0.393000													17	48					4.63292e-17	5.93508e-17	0.049695	1	0
ALPI	248	broad.mit.edu	37	2	233321770	233321770	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:233321770G>T	ENST00000295463.3	+	4	539	c.462G>T	c.(460-462)cgG>cgT	p.R154R		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	154					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGATGAACCGGGCCAAGCAAG	0.607000													14	30					1.56452e-12	1.88177e-12	0.043863	1	0
ZNF292	23036	broad.mit.edu	37	6	87968147	87968147	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:87968147C>T	ENST00000369577.3	+	8	4843	c.4800C>T	c.(4798-4800)acC>acT	p.T1600T	ZNF292_ENST00000339907.4_Silent_p.T1595T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAATTTTACCAGTAACAGTT	0.373000													15	17					0	0	0.043863	0	0
PALD1	27143	broad.mit.edu	37	10	72326469	72326469	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:72326469G>T	ENST00000263563.6	+	20	2819	c.2551G>T	c.(2551-2553)Gcc>Tcc	p.A851S		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGCCCTCTGCCCCCGAGGA	0.697000													3	11					0.00909568	0.00933277	0.009096	1	0
AEN	64782	broad.mit.edu	37	15	89169422	89169422	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:89169422A>T	ENST00000332810.3	+	0	133				AEN_ENST00000379231.3_De_novo_Start_OutOfFrame	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease						apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCTTGCCCCAAGCAGTGAGC	0.607000													16	40					0	0	0.069288	0	0
TTN	7273	broad.mit.edu	37	2	179612927	179612927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:179612927C>A	ENST00000360870.5	-	46	14422	c.14200G>T	c.(14200-14202)Gcc>Tcc	p.A4734S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	845	Ig-like 27.						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)			GGAAGTAGGGCACATGATTCA	0.353000													9	51					0.0477658	0.0483238	0.047766	1	0
SPCS2	9789	broad.mit.edu	37	11	74680729	74680729	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:74680729C>T	ENST00000263672.6	+	4	518	c.479C>T	c.(478-480)tCc>tTc	p.S160F	SPCS2_ENST00000530257.1_Missense_Mutation_p.S91F|SPCS2_ENST00000526361.1_Missense_Mutation_p.S21F|SPCS2_ENST00000528265.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	160					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						TGGCAGCTGTCCTCCAGTCTT	0.408000													66	114					0	0	0.139131	0	0
VAV3	10451	broad.mit.edu	37	1	108247681	108247681	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:108247681G>T	ENST00000370056.4	-	16	1779	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	VAV3_ENST00000527011.1_Missense_Mutation_p.S502Y|VAV3_ENST00000371846.4_Missense_Mutation_p.S437Y|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	502	PH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCTTATGTTAGACCTAAAAAA	0.383000													10	17					0.000442599	0.000458482	0.058154	1	0
TBC1D9	23158	broad.mit.edu	37	4	141543632	141543632	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:141543632T>A	ENST00000442267.2	-	21	3592	c.3518A>T	c.(3517-3519)cAc>cTc	p.H1173L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1173						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTCCTCCTCGTGGGAGCCGGC	0.672000													14	52					0	0	0.038395	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576056	11576056	+	Splice_Site	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:11576056A>T	ENST00000294484.6	+	6	1726		c.e6-1		PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCTCCCACAGGTGTGGACG	0.592000													24	26					0	0	0.108266	0	0
MTX2	10651	broad.mit.edu	37	2	177193608	177193608	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:177193608C>T	ENST00000392529.2	+	8	760	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	MTX2_ENST00000443241.1_Missense_Mutation_p.L73F|MTX2_ENST00000249442.6_Missense_Mutation_p.L129F			O75431	MTX2_HUMAN	metaxin 2	129					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CTAGCTGTATCTTCAGTGGTG	0.333000													4	142					0	0	0.038147	0	0
LPO	4025	broad.mit.edu	37	17	56342295	56342295	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:56342295C>T	ENST00000262290.4	+	10	1795	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	LPO_ENST00000421678.2_Silent_p.L410L|LPO_ENST00000543544.1_Silent_p.L434L|LPO_ENST00000582328.1_Silent_p.L410L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	493					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AACTCCCCCTCCACACCCTCT	0.557000													33	63					0	0	0.098360	0	0
ROBO2	6092	broad.mit.edu	37	3	77666791	77666791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:77666791C>A	ENST00000461745.1	+	22	4321	c.3421C>A	c.(3421-3423)Cct>Act	p.P1141T	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1157T|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1141T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1141					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCTTCTTCTCCTGCTATCTC	0.507000													14	76					0.000219431	0.000230058	0.119110	1	0
CSMD3	114788	broad.mit.edu	37	8	113678527	113678527	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:113678527G>C	ENST00000297405.5	-	17	3039	c.2795C>G	c.(2794-2796)tCt>tGt	p.S932C	CSMD3_ENST00000343508.3_Missense_Mutation_p.S892C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S828C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S932C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	932	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTTGATAGAGTGTCCAGG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	47					0	0	0.080935	0	0
MME	4311	broad.mit.edu	37	3	154886336	154886336	+	Silent	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:154886336A>T	ENST00000460393.1	+	19	1956	c.1836A>T	c.(1834-1836)gcA>gcT	p.A612A	MME_ENST00000462745.1_Silent_p.A612A|MME_ENST00000360490.2_Silent_p.A612A|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Silent_p.A612A|MME_ENST00000493237.1_Silent_p.A612A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	612					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACAGTCTGCAAGTAACTTTA	0.413000													18	67					0	0	0.043863	0	0
IGSF3	3321	broad.mit.edu	37	1	117156400	117156400	+	Silent	SNP	G	G	A	rs147777098		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:117156400G>A	ENST00000369486.3	-	4	1584	c.819C>T	c.(817-819)aaC>aaT	p.N273N	IGSF3_ENST00000369483.1_Silent_p.N273N|IGSF3_ENST00000318837.6_Silent_p.N273N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	273						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TTGGCTGGACGTTGACCACGG	0.572000													18	49					0	0	0.049695	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522033	102522033	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:102522033C>T	ENST00000321521.9	+	27	3755	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1061					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCACTGTGCGGGCCTGTTT	0.488000													11	30					0	0	0.080935	0	0
F9	2158	broad.mit.edu	37	X	138633338	138633338	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:138633338A>G	ENST00000218099.2	+	6	645	c.638A>G	c.(637-639)aAc>aGc	p.N213S	F9_ENST00000394090.2_Missense_Mutation_p.N175S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	213					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ATTTTGGATAACATCACTCAA	0.413000													56	25					0	0	0.139131	0	0
PEG3	5178	broad.mit.edu	37	19	57326479	57326479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:57326479C>A	ENST00000326441.9	-	10	3694	c.3331G>T	c.(3331-3333)Gac>Tac	p.D1111Y	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D985Y|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1111Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D987Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1111					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)		AGGCCACAGTCCTCACATTCA	0.502000													52	50					5.82089e-37	8.93775e-37	0.139131	1	0
DOCK10	55619	broad.mit.edu	37	2	225672755	225672755	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:225672755A>C	ENST00000409592.3	-	32	3553	c.3440T>G	c.(3439-3441)tTa>tGa	p.L1147*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.L1153*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1153							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATTCCGATTAAGAAGTGTTT	0.373000													12	26					0	0	0.105934	0	0
NIN	51199	broad.mit.edu	37	14	51243735	51243735	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:51243735C>A	ENST00000245441.5	-	7	788	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	NIN_ENST00000530997.2_Missense_Mutation_p.G200C|NIN_ENST00000453196.1_Missense_Mutation_p.G200C|NIN_ENST00000389868.3_Missense_Mutation_p.G200C|NIN_ENST00000382041.3_Missense_Mutation_p.G200C|NIN_ENST00000382043.4_Missense_Mutation_p.G200C|NIN_ENST00000324330.9_Missense_Mutation_p.G200C	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	200	EF-hand 3.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCAGGTGACCATCACGGGTG	0.463000			T	PDGFRB	MPD								33	46					3.21399e-22	4.41797e-22	0.074837	1	0
OTOP1	133060	broad.mit.edu	37	4	4199804	4199804	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:4199804T>A	ENST00000296358.4	-	5	781	c.757A>T	c.(757-759)Aac>Tac	p.N253Y		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	253					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGTGCAGTTACACTGCGGT	0.522000													33	44					0	0	0.111260	0	0
ZNF597	146434	broad.mit.edu	37	16	3493140	3493140	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:3493140G>T	ENST00000301744.4	-	2	249	c.14C>A	c.(13-15)cCc>cAc	p.P5H	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GGGCGTCGGGGGCATGGACGC	0.582000													26	64					9.78306e-22	1.32792e-21	0.144211	1	0
IPO9	55705	broad.mit.edu	37	1	201823951	201823951	+	Splice_Site	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:201823951G>C	ENST00000361565.4	+	8	880	c.810_splice	c.e8-1	p.A271_splice		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	271					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AACTTCTTAGGCAGTGACAGC	0.413000													15	104					0	0	0.132662	0	0
TMEM223	79064	broad.mit.edu	37	11	62559426	62559426	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:62559426G>A	ENST00000307366.7	-	1	67	c.41C>T	c.(40-42)gCc>gTc	p.A14V	TMEM223_ENST00000525631.1_Missense_Mutation_p.A14V	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	14						integral to membrane											CCGCAGCACGGCTAGCAGCCC	0.706000													4	8					0	0	0.021553	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002105	27002105	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:27002105G>A	ENST00000314616.6	+	5	746	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.G155R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	155	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGATGGGGAAGGGGAAGAAGG	0.512000													10	39					0	0	0.080935	0	0
CACNA1D	776	broad.mit.edu	37	3	53700466	53700466	+	Silent	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:53700466G>C	ENST00000288139.3	+	7	1138	c.1020G>C	c.(1018-1020)ccG>ccC	p.P340P	CACNA1D_ENST00000350061.5_Silent_p.P340P|CACNA1D_ENST00000422281.2_Silent_p.P340P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	340					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGGTTGGCCCGAACGGAGGCA	0.527000													59	221					0	0	0.139131	0	0
INTS8	55656	broad.mit.edu	37	8	95866092	95866092	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:95866092A>T	ENST00000523731.1	+	14	1834	c.1701A>T	c.(1699-1701)agA>agT	p.R567S	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R567S	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	567					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTTAACAAGAGATTTGGTTT	0.328000													31	131					0	0	0.104719	0	0
PC	5091	broad.mit.edu	37	11	66619932	66619932	+	Silent	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:66619932G>C	ENST00000393960.1	-	15	2084	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	PC_ENST00000393958.2_Silent_p.L601L|PC_ENST00000393955.2_Silent_p.L601L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	601	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)	CCATGCTGAAGAGCTTGCTGA	0.622000													4	69					0	0	0.021553	0	0
COL5A3	50509	broad.mit.edu	37	19	10089594	10089594	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:10089594G>T	ENST00000264828.3	-	40	3022	c.2937C>A	c.(2935-2937)ccC>ccA	p.P979P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	979	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTTGGGGCCGGGAAAGCCCC	0.627000													5	8					5.18039e-06	5.60777e-06	0.038147	1	0
HGD	3081	broad.mit.edu	37	3	120394669	120394669	+	Silent	SNP	A	A	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:120394669A>C	ENST00000283871.5	-	2	516	c.57T>G	c.(55-57)ccT>ccG	p.P19P	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	19					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTGGGCAGCGAGGATCCTCTG	0.443000													54	95					0	0	0.139131	0	0
TRIM58	25893	broad.mit.edu	37	1	248039589	248039589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:248039589G>T	ENST00000366481.3	+	6	1307	c.1259G>T	c.(1258-1260)gGt>gTt	p.G420V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	420	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TATGAAGCCGGTGAAATTTCA	0.443000													96	305					2.01602e-52	3.2941e-52	0.139131	1	0
SFRP2	6423	broad.mit.edu	37	4	154702677	154702677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:154702677A>G	ENST00000274063.4	-	3	1098	c.814T>C	c.(814-816)Tcg>Ccg	p.S272P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGCTTCACCGAGGTGATCACC	0.592000													34	69					0	0	0.098360	0	0
ACTC1	70	broad.mit.edu	37	15	35084464	35084464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:35084464C>G	ENST00000290378.4	-	5	1290	c.635G>C	c.(634-636)cGt>cCt	p.R212P	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	212					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTAATGTCACGGACAATTTC	0.468000													24	19					0	0	0.116897	0	0
RYR2	6262	broad.mit.edu	37	1	237802341	237802341	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:237802341G>A	ENST00000366574.2	+	46	7272	c.6955G>A	c.(6955-6957)Gtc>Atc	p.V2319I	RYR2_ENST00000360064.6_Missense_Mutation_p.V2317I|RYR2_ENST00000542537.1_Missense_Mutation_p.V2303I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAATGCAAATGTCGTGGTGAG	0.413000													10	65					0	0	0.080935	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460467	110460467	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:110460467A>T	ENST00000378402.5	+	39	5976	c.5872A>T	c.(5872-5874)Acc>Tcc	p.T1958S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1958	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTAATGTAACCATGGCCAA	0.438000										HNSCC(38;0.096)			9	29					0	0	0.058154	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882690	228882690	+	Silent	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:228882690A>G	ENST00000392056.3	-	7	2926	c.2880T>C	c.(2878-2880)tgT>tgC	p.C960C	SPHKAP_ENST00000344657.5_Silent_p.C960C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	960						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTTCCATGCACAAAACCAGG	0.517000													20	118					0	0	0.083992	0	0
ZBP1	81030	broad.mit.edu	37	20	56179675	56179675	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:56179675A>G	ENST00000340462.4	-	7	1455	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	ZBP1_ENST00000395822.3_Missense_Mutation_p.V340A|ZBP1_ENST00000371173.3_Missense_Mutation_p.V415A			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	415						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCTTCATCCACATAGTGGCT	0.597000													53	96					0	0	0.139131	0	0
CELA2A	63036	broad.mit.edu	37	1	15793991	15793991	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:15793991C>A	ENST00000359621.4	+	7	775	c.750C>A	c.(748-750)tcC>tcA	p.S250S	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACAAGCCCTCCGTCTTCACGC	0.627000													35	52					4.67007e-22	6.37898e-22	0.104719	1	0
GPR98	84059	broad.mit.edu	37	5	90079698	90079698	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:90079698G>A	ENST00000405460.2	+	67	13573	c.13477G>A	c.(13477-13479)Gga>Aga	p.G4493R	GPR98_ENST00000425867.2_Missense_Mutation_p.G154R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4493					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAGCTACTGGAGGAGCGGT	0.423000													9	19					0	0	0.069234	0	0
MYOF	26509	broad.mit.edu	37	10	95155909	95155909	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:95155909C>A	ENST00000371501.4	-	16	1529	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	MYOF_ENST00000371502.4_Silent_p.G469G|MYOF_ENST00000359263.4_Silent_p.G469G|MYOF_ENST00000358334.5_Silent_p.G469G			Q9NZM1	MYOF_HUMAN	myoferlin	469					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTCCACTTCCCCACCAGAGG	0.383000													23	88					6.84511e-11	8.09818e-11	0.059317	1	0
SUFU	51684	broad.mit.edu	37	10	104375134	104375134	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:104375134G>A	ENST00000369902.3	+	9	1298	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	SUFU_ENST00000423559.2_Missense_Mutation_p.G378R|SUFU_ENST00000369899.2_Missense_Mutation_p.G378R	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	378					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.S377fs*7(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCAGGAGTCCGGAGCCCTCAT	0.587000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				3	93					0	0	0.009096	0	0
LMX1A	4009	broad.mit.edu	37	1	165173266	165173266	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:165173266G>T	ENST00000342310.3	-	9	1382	c.1000C>A	c.(1000-1002)Ctt>Att	p.L334I	LMX1A_ENST00000367893.4_Missense_Mutation_p.L334I|LMX1A_ENST00000294816.2_Missense_Mutation_p.L334I|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	334						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCATGGAAAAGGGGCTCGGCA	0.498000													32	104					1.30998e-17	1.68816e-17	0.080422	1	0
DCT	1638	broad.mit.edu	37	13	95118871	95118871	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr13:95118871C>T	ENST00000377028.5	-	3	1050	c.637G>A	c.(637-639)Gga>Aga	p.G213R	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.G213R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	213					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AATGCAGGTCCTTGATGTGAG	0.373000													3	64					0	0	0.009096	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229117	90229117	+	RNA	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:90229117C>A	ENST00000390278.2	+	0	73																											CTCTGGCTCCCAGGTAAGGAA	0.527000													26	137					5.43694e-19	7.22145e-19	0.080422	1	0
TAS1R2	80834	broad.mit.edu	37	1	19167000	19167000	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:19167000C>T	ENST00000375371.3	-	6	1634	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	538					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTATTCGGGCAGGCCTGGCA	0.587000													14	50					0	0	0.038395	0	0
CCNF	899	broad.mit.edu	37	16	2505547	2505547	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:2505547G>C	ENST00000397066.4	+	16	1955	c.1867G>C	c.(1867-1869)Ggc>Cgc	p.G623R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	623	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGAGAGTGAGGGCGAGAAGGA	0.667000													4	36					0	0	0.021553	0	0
SYTL2	54843	broad.mit.edu	37	11	85445059	85445059	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:85445059G>A	ENST00000316356.4	-	7	1877	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	SYTL2_ENST00000524452.1_Missense_Mutation_p.S437L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S437L|SYTL2_ENST00000527523.1_Missense_Mutation_p.S389L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S437L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	437					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGGTTGGTGAATTCTCCAT	0.398000													34	116					0	0	0.074837	0	0
ERC2	26059	broad.mit.edu	37	3	56468916	56468916	+	Silent	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr3:56468916T>A	ENST00000288221.6	-	2	375	c.120A>T	c.(118-120)acA>acT	p.T40T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	40	Poly-Gly.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAGTCTTGCCTGTTCCTCCAC	0.522000													39	69					0	0	0.139131	0	0
LTBP1	4052	broad.mit.edu	37	2	33246003	33246003	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:33246003G>T	ENST00000404816.2	+	3	946	c.593G>T	c.(592-594)gGa>gTa	p.G198V	LTBP1_ENST00000354476.3_Missense_Mutation_p.G198V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	198	EGF-like 1.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTCAGAATGGAGGGATGTGT	0.478000													76	395					4.00701e-44	6.40235e-44	0.139131	1	0
C1orf116	79098	broad.mit.edu	37	1	207200869	207200869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:207200869C>A	ENST00000359470.5	-	2	324	c.75G>T	c.(73-75)atG>atT	p.M25I	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	25						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGCTGCTCATCATGCTGTCAC	0.632000													36	212					3.86236e-30	5.70786e-30	0.139131	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814645	106814645	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:106814645G>A	ENST00000407775.2	+	8	2585	c.2335G>A	c.(2335-2337)Ggg>Agg	p.G779R	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G647R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G647R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G510R|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	779					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			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)			ACCCACAGAAGGGCTAGGAGA	0.468000													7	31					0	0	0.047766	0	0
AURKC	6795	broad.mit.edu	37	19	57743543	57743543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:57743543G>T	ENST00000302804.7	+	3	433	c.247G>T	c.(247-249)Gga>Tga	p.G83*	AURKC_ENST00000448930.1_Nonsense_Mutation_p.G49*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.G64*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.G80*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.G49*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	83	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGAGAAGGAAGGACTGGAGCA	0.517000													12	45					4.7546e-09	5.44641e-09	0.146539	1	0
MUC16	94025	broad.mit.edu	37	19	9061110	9061110	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:9061110G>A	ENST00000397910.4	-	3	26539	c.26336C>T	c.(26335-26337)aCg>aTg	p.T8779M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8781	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						TGATCCTGTCGTGGTGAGGGG	0.507000													7	129					0	0	0.038147	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470920	25470920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:25470920C>A	ENST00000264709.3	-	7	1178	c.841G>T	c.(841-843)Gag>Tag	p.E281*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E58*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E281*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E92*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	281	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.E281K(1)|p.E92K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCTGGCTCGTCATCGCCT	0.652000			"""Mis, F, N, S"""		AML								42	46					1.86277e-20	2.50491e-20	0.139131	1	0
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348000													3	48					0	0	0.009096	0	0
CHRM2	1129	broad.mit.edu	37	7	136700946	136700946	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:136700946C>A	ENST00000445907.2	+	3	1862	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A445D|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A445D|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A445D|CHRM2_ENST00000402486.3_Missense_Mutation_p.A445D|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A445D|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	445					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.A445G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTTTGCAATGCCACCTTCAAG	0.423000													54	93					4.09106e-26	5.77013e-26	0.139131	1	0
LPA	4018	broad.mit.edu	37	6	160977164	160977164	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:160977164C>G	ENST00000447678.1	-	31	4986	c.4866G>C	c.(4864-4866)caG>caC	p.Q1622H	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				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	p.Q1622H(1)		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)	CTCGATAACTCTGGCCATTAC	0.488000													43	150					0	0	0.139131	0	0
MDGA2	161357	broad.mit.edu	37	14	47389216	47389216	+	Splice_Site	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:47389216T>A	ENST00000426342.1	-	10	2089	c.1344_splice	c.e10+1	p.Q448_splice	MDGA2_ENST00000439988.2_Splice_Site_p.Q677_splice|MDGA2_ENST00000357362.3_Splice_Site_p.Q448_splice|MDGA2_ENST00000399232.2_Splice_Site_p.Q746_splice	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	677	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTTCTCACCTGCCTGATGCC	0.408000													18	35					0	0	0.091800	0	0
NRXN1	9378	broad.mit.edu	37	2	51254824	51254824	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:51254824G>T	ENST00000404971.1	-	2	1927	c.588C>A	c.(586-588)ccC>ccA	p.P196P	NRXN1_ENST00000405472.3_Silent_p.P196P|NRXN1_ENST00000406859.3_Silent_p.P196P|NRXN1_ENST00000405581.1_Silent_p.P196P|NRXN1_ENST00000402717.3_Silent_p.P196P|NRXN1_ENST00000401669.2_Silent_p.P196P|NRXN1_ENST00000406316.2_Silent_p.P196P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	196	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCTGTCCACGGGCAGGACCT	0.716000													5	13					2.0095e-06	2.21403e-06	0.029380	1	0
DENND3	22898	broad.mit.edu	37	8	142154284	142154284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:142154284G>T	ENST00000519811.1	+	5	731	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L	DENND3_ENST00000424248.1_Missense_Mutation_p.V141L|DENND3_ENST00000262585.2_Missense_Mutation_p.V141L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	141	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105)			AGATTTTGAAGTGGACAGTCA	0.393000													32	46					1.59361e-14	1.9659e-14	0.092188	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480313	140480313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:140480313G>T	ENST00000231130.2	+	1	80	c.80G>T	c.(79-81)gGg>gTg	p.G27V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGGCTGGGTCCGAGTCA	0.502000													24	48					1.77063e-15	2.21585e-15	0.108266	1	0
PER1	5187	broad.mit.edu	37	17	8046768	8046768	+	Missense_Mutation	SNP	G	G	T	rs143964144	byFrequency	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:8046768G>T	ENST00000317276.4	-	19	3125	c.2888C>A	c.(2887-2889)cCg>cAg	p.P963Q	PER1_ENST00000581082.1_Missense_Mutation_p.P940Q|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	963	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGACTCGGGGCGAGGGC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	15					2.23348e-06	2.44217e-06	0.146539	1	0
OR4X2	119764	broad.mit.edu	37	11	48266801	48266801	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:48266801C>T	ENST00000302329.3	+	1	194	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCCTTGGTTCCCCCATGTAC	0.488000													25	89					0	0	0.045705	0	0
E2F3	1871	broad.mit.edu	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741000													3	53					0	0	0.009096	0	0
C5orf42	65250	broad.mit.edu	37	5	37186460	37186460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:37186460C>A	ENST00000274258.7	-	24	4347	c.760G>T	c.(760-762)Gag>Tag	p.E254*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1373*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1373*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1373										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCACGTCCTCAGGATAGGGA	0.353000													56	111					2.73218e-42	4.33346e-42	0.139131	1	0
OR4C11	219429	broad.mit.edu	37	11	55371074	55371074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:55371074G>T	ENST00000302231.4	-	1	800	c.776C>A	c.(775-777)cCc>cAc	p.P259H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGTGGTCGGGGGGCGTGTATA	0.448000													26	80					2.09667e-21	2.83705e-21	0.064281	1	0
POLR2A	5430	broad.mit.edu	37	17	7400798	7400798	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:7400798G>T	ENST00000322644.6	+	6	1342	c.943G>T	c.(943-945)Gcc>Tcc	p.A315S	POLR2A_ENST00000572844.1_Missense_Mutation_p.A315S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	315					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTTCCATGTGGCCACCATGGT	0.592000													23	39					1.50538e-07	1.71084e-07	0.116897	1	0
CUX2	23316	broad.mit.edu	37	12	111785834	111785834	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr12:111785834G>A	ENST00000261726.6	+	22	4320	c.4166G>A	c.(4165-4167)tGc>tAc	p.C1389Y		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1389	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTCACGCTGCAGCCTGGAG	0.607000													28	99					0	0	0.144211	0	0
ZNF835	90485	broad.mit.edu	37	19	57175831	57175831	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:57175831C>T	ENST00000537055.2	-	2	967	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCACCGGTGTGGATG	0.692000													7	33					0	0	0.058154	0	0
VCAN	1462	broad.mit.edu	37	5	82843811	82843811	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:82843811A>T	ENST00000265077.3	+	10	9966	c.9401A>T	c.(9400-9402)aAt>aTt	p.N3134I	VCAN_ENST00000502527.2_Missense_Mutation_p.N393I|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.N1332I|VCAN_ENST00000343200.5_Missense_Mutation_p.N2147I|VCAN_ENST00000342785.4_Missense_Mutation_p.N1380I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3134	EGF-like 2; calcium-binding (Potential).				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)		TGTCACTCTAATCCCTGTCGT	0.378000													41	77					0	0	0.139131	0	0
GLS	2744	broad.mit.edu	37	2	191792176	191792176	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:191792176A>T	ENST00000320717.3	+	12	1651	c.1393A>T	c.(1393-1395)Atg>Ttg	p.M465L	GLS_ENST00000409626.1_Missense_Mutation_p.M36L|GLS_ENST00000338435.4_Missense_Mutation_p.M465L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	465					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCCTGTGGCATGTATGACTT	0.403000													17	136					0	0	0.116897	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603598	10603598	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:10603598G>A	ENST00000334534.5	+	8	978	c.798G>A	c.(796-798)ggG>ggA	p.G266G		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TAAAGACAGGGCTTCTAAGCA	0.517000													4	141					0	0	0.021553	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771187	90771187	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr15:90771187T>C	ENST00000411539.2	+	14	2086	c.1826T>C	c.(1825-1827)tTg>tCg	p.L609S	SEMA4B_ENST00000379122.3_Missense_Mutation_p.L604S|SEMA4B_ENST00000332496.6_Missense_Mutation_p.L609S	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GTGAACACTTTGGCCTGCCCG	0.637000													20	51					0	0	0.055883	0	0
RPS3	6188	broad.mit.edu	37	11	75115247	75115247	+	Silent	SNP	A	A	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:75115247A>G	ENST00000531188.1	+	5	596	c.534A>G	c.(532-534)agA>agG	p.R178R	RPS3_ENST00000278572.6_Silent_p.R194R|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_Silent_p.R166R|RPS3_ENST00000527446.1_Silent_p.R178R|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000524851.1_Silent_p.R178R	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	178					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGTTGCTCAGACAGGGTGAGC	0.488000													29	20					0	0	0.054565	0	0
TRPS1	7227	broad.mit.edu	37	8	116427156	116427156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:116427156C>A	ENST00000395715.3	-	7	3557	c.2980G>T	c.(2980-2982)Gag>Tag	p.E994*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E985*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E981*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E735*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	981	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GACCTCCTCTCTAACGGGCTT	0.493000									Langer-Giedion syndrome				78	115					7.30829e-53	1.19867e-52	0.139131	1	0
VWA3A	146177	broad.mit.edu	37	16	22152971	22152971	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:22152971A>T	ENST00000389398.5	+	24	2548	c.2452A>T	c.(2452-2454)Aca>Tca	p.T818S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	818						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGAAGCAGAGACATCTCTTTT	0.532000													11	3					0	0	0.093190	0	0
CSMD3	114788	broad.mit.edu	37	8	113662416	113662416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:113662416C>A	ENST00000297405.5	-	19	3411	c.3167G>T	c.(3166-3168)tGg>tTg	p.W1056L	CSMD3_ENST00000343508.3_Missense_Mutation_p.W1016L|CSMD3_ENST00000455883.2_Missense_Mutation_p.W952L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1056L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1056	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGATGACTCCACCAGTGGTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	65					4.6707e-30	6.87895e-30	0.139131	1	0
OR51S1	119692	broad.mit.edu	37	11	4870065	4870065	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:4870065G>C	ENST00000322101.2	-	1	449	c.374C>G	c.(373-375)gCc>gGc	p.A125G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGACATGGCGAGCAAGAC	0.522000													27	99					0	0	0.144211	0	0
OR2M5	127059	broad.mit.edu	37	1	248308957	248308957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:248308957G>T	ENST00000366476.1	+	1	508	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	170					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)			CTCCTACTGTGGGTCTCGGGA	0.448000													17	604					4.87955e-14	5.9854e-14	0.108266	1	0
TLK1	9874	broad.mit.edu	37	2	171871449	171871449	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:171871449C>G	ENST00000442919.2	-	13	1717	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	TLK1_ENST00000360843.3_Missense_Mutation_p.E437Q|TLK1_ENST00000431350.2_Missense_Mutation_p.E416Q|TLK1_ENST00000521943.1_Missense_Mutation_p.E368Q|TLK1_ENST00000434911.2_Missense_Mutation_p.E320Q	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	416					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GCCTGGATTTCTGCCTCTTCC	0.338000													20	136					0	0	0.099896	0	0
CNGB3	54714	broad.mit.edu	37	8	87755762	87755762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr8:87755762G>T	ENST00000320005.5	-	1	141	c.94C>A	c.(94-96)Cac>Aac	p.H32N	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	32					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTACTTGGGTGAGAGCCTTCT	0.398000													35	73					1.96642e-18	2.58802e-18	0.092188	1	0
NCOA3	8202	broad.mit.edu	37	20	46275823	46275823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:46275823G>T	ENST00000372004.3	+	18	3475	c.3259G>T	c.(3259-3261)Gca>Tca	p.A1087S	NCOA3_ENST00000371998.3_Missense_Mutation_p.A1087S|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1017S|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1082S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1087	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAAGGGACAGGCATTAGAGCC	0.428000													29	64					4.3949e-29	6.38588e-29	0.069456	1	0
PADI2	11240	broad.mit.edu	37	1	17395648	17395648	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:17395648G>T	ENST00000375486.4	-	16	1952	c.1889C>A	c.(1888-1890)aCc>aAc	p.T630N	PADI2_ENST00000444885.2_Missense_Mutation_p.T514N|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	630					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTCGATGAAGGTGCATTCGAG	0.597000													57	74					7.91278e-47	1.27369e-46	0.139131	1	0
TRAV19	28664	broad.mit.edu	37	14	22476386	22476386	+	RNA	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:22476386G>T	ENST00000390447.3	+	0	433																											ACAAGTCGTGGACTCAGCAGT	0.498000													5	10					0.0293803	0.0297932	0.029380	1	0
P2RX6	9127	broad.mit.edu	37	22	21377449	21377449	+	Silent	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr22:21377449C>A	ENST00000413302.2	+	6	748	c.600C>A	c.(598-600)atC>atA	p.I200I	P2RX6_ENST00000336296.2_Silent_p.I190I|P2RX6_ENST00000401443.1_Silent_p.I174I|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.I147I			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	200					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CACTGTTCATCAAAAACACAG	0.577000													38	31					2.68985e-26	3.80623e-26	0.139131	1	0
TDRD1	56165	broad.mit.edu	37	10	115963326	115963326	+	Splice_Site	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:115963326G>A	ENST00000251864.2	+	8	1134	c.981_splice	c.e8+1	p.Q327_splice	TDRD1_ENST00000369281.2_Splice_Site_p.Q327_splice|TDRD1_ENST00000369282.1_Splice_Site_p.Q327_splice|TDRD1_ENST00000369280.1_Splice_Site_p.Q327_splice|TDRD1_ENST00000422662.1_Splice_Site_p.Q36_splice	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	327	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTGTTGATCAGGTAACCTGTA	0.363000													14	40					0	0	0.043863	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407201	62407201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:62407201G>T	ENST00000245663.4	-	3	1202	c.1052C>A	c.(1051-1053)cCt>cAt	p.P351H	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P351H|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P351H	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGTGAGGGGAGGGCCCAGATA	0.657000													19	46					2.48779e-11	2.97573e-11	0.108266	1	0
CR2	1380	broad.mit.edu	37	1	207658874	207658874	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:207658874T>A	ENST00000367057.3	+	19	3443	c.3254T>A	c.(3253-3255)gTt>gAt	p.V1085D	CR2_ENST00000367059.3_Missense_Mutation_p.V964D|CR2_ENST00000367058.3_Missense_Mutation_p.V1026D|CR2_ENST00000458541.2_Missense_Mutation_p.V999D	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	1026					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATATTCTGTTGATCCATAC	0.303000													54	58					0	0	0.139131	0	0
MMAA	166785	broad.mit.edu	37	4	146567138	146567138	+	Splice_Site	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr4:146567138G>A	ENST00000281317.5	+	4	1773	c.562_splice	c.e4-1	p.G188_splice	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	188						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGTTTTAGGATCACTCTTA	0.393000													30	33					0	0	0.064281	0	0
RBM44	375316	broad.mit.edu	37	2	238726829	238726829	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:238726829G>T	ENST00000316997.4	+	3	1402	c.1270G>T	c.(1270-1272)Gca>Tca	p.A424S	RBM44_ENST00000409864.1_Missense_Mutation_p.A424S|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	423							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGATAATCAGGCAATAGAAGA	0.373000													3	30					0.115264	0.115799	0.115264	1	0
VWCE	220001	broad.mit.edu	37	11	61039228	61039228	+	Silent	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:61039228G>A	ENST00000335613.5	-	14	2090	c.1704C>T	c.(1702-1704)tgC>tgT	p.C568C	VWCE_ENST00000535710.1_Silent_p.C33C	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	568	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGTCAAGAGAGCAGCCTGGAT	0.532000													6	20					0	0	0.029380	0	0
MORC4	79710	broad.mit.edu	37	X	106185873	106185873	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:106185873T>C	ENST00000355610.4	-	15	2522	c.2248A>G	c.(2248-2250)Aga>Gga	p.R750G	MORC4_ENST00000535534.1_Missense_Mutation_p.R498G|MORC4_ENST00000255495.7_Missense_Mutation_p.R750G	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	750							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCATAGCCTCTTGCTTTCTCC	0.478000													83	26					0	0	0.139131	0	0
ITGA1	3672	broad.mit.edu	37	5	52183682	52183682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:52183682G>T	ENST00000282588.6	+	8	1267	c.809G>T	c.(808-810)aGa>aTa	p.R270I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	270	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GGTGCCCGAAGAGGAGTTAAA	0.398000													25	58					1.88708e-17	2.42465e-17	0.134883	1	0
KIF1A	547	broad.mit.edu	37	2	241727525	241727525	+	Silent	SNP	G	G	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:241727525G>T	ENST00000498729.2	-	4	552	c.306C>A	c.(304-306)ggC>ggA	p.G102G	KIF1A_ENST00000320389.7_Silent_p.G102G	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	102	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTAGGACTTGCCGGCACCCG	0.642000													5	24					1.23904e-05	1.3247e-05	0.014758	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40836126	40836126	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:40836126G>A	ENST00000264638.4	+	3	459	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	81	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AAGAAGCACCGGATCCGGGCC	0.557000													56	246					0	0	0.139131	0	0
CPED1	79974	broad.mit.edu	37	7	120740123	120740123	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:120740123C>G	ENST00000310396.5	+	7	1360	c.893C>G	c.(892-894)cCa>cGa	p.P298R	CPED1_ENST00000423795.1_Missense_Mutation_p.P78R|CPED1_ENST00000450913.2_Missense_Mutation_p.P298R	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGGAATCCACCAAAGAAAAAA	0.433000													8	13					0	0	0.080935	0	0
PRSS1	5644	broad.mit.edu	37	7	142460308	142460308	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:142460308C>A	ENST00000486171.1	+	5	540	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PRSS1_ENST00000311737.7_Missense_Mutation_p.L161M			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	161	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)			GCTGCAGTGCCTGGATGCTCC	0.522000													115	349					2.6563e-64	4.38999e-64	0.139131	1	0
CRB1	23418	broad.mit.edu	37	1	197404541	197404542	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr1:197404541_197404542insA	ENST00000367397.1	+	5	2549_2550	c.1691_1692insA	c.(1690-1692)taafs	p.*564fs	CRB1_ENST00000544212.1_Frame_Shift_Ins_p.*664fs|CRB1_ENST00000367400.3_Frame_Shift_Ins_p.*1183fs|CRB1_ENST00000535699.1_Frame_Shift_Ins_p.*1159fs|CRB1_ENST00000367399.2_Frame_Shift_Ins_p.*1071fs|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1183	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAATGCTTTTCAAACCCCTGTA	0.470													62	35	---	---	---	---					
SFTPB	6439	broad.mit.edu	37	2	85893768	85893769	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:85893768_85893769insG	ENST00000393822.3	-	5	499_500	c.400_401insC	c.(400-402)ggtfs	p.G134fs	SFTPB_ENST00000519937.2_Frame_Shift_Ins_p.G122fs|SFTPB_ENST00000409383.1_Frame_Shift_Ins_p.G134fs|SFTPB_ENST00000342375.3_Frame_Shift_Ins_p.G122fs			P07988	PSPB_HUMAN	surfactant protein B	122	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GTCGATGACCAGGGGGAAGTAG	0.614													47	164	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141027833	141027834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:141027833_141027834insG	ENST00000389484.3	-	86	14195_14196	c.13224_13225insC	c.(13222-13227)ccagacfs	p.D4409fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4409	EGF-like 14.				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)		ACATTTGTCTCGGGGTCCAGCT	0.411										TSP Lung(27;0.18)			49	143	---	---	---	---					
HOXD3	3232	broad.mit.edu	37	2	177034068	177034069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr2:177034068_177034069insT	ENST00000468418.3	+	3	2316_2317	c.226_227insT	c.(226-228)gagfs	p.E76fs	HOXD3_ENST00000249440.3_Frame_Shift_Ins_p.E76fs|HOXD3_ENST00000410016.1_Frame_Shift_Ins_p.E76fs			P31249	HXD3_HUMAN	homeobox D3	76					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTCTGCCCCTCTGAGAGCCCCA	0.658													30	109	---	---	---	---					
TENM2	57451	broad.mit.edu	37	5	167517633	167517633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr5:167517633delC	ENST00000519204.1	+	7	1325	c.1207delC	c.(1207-1209)ccfs	p.P403fs	TENM2_ENST00000403607.2_Frame_Shift_Del_p.P357fs|TENM2_ENST00000518659.1_Frame_Shift_Del_p.P524fs|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Frame_Shift_Del_p.P524fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.P292fs					teneurin transmembrane protein 2																		GGTTGAGTCTCCCAGGGAACG	0.527													55	195	---	---	---	---					
HLA-C	3107	broad.mit.edu	37	6	31238092	31238092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr6:31238092delT	ENST00000383329.3	-	4	804	c.790delA	c.(790-792)ccfs	p.T264fs	HLA-C_ENST00000376228.5_Frame_Shift_Del_p.T264fs			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	264	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTGGAAGGTTCCATCTCCT	0.617													27	100	---	---	---	---					
ZNF804B	219578	broad.mit.edu	37	7	88964303	88964304	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr7:88964303_88964304insG	ENST00000333190.4	+	4	2616_2617	c.2007_2008insG	c.(2005-2010)caggaafs	p.E670fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	670						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAGTGACCATGGGAAAGACTT	0.431										HNSCC(36;0.09)			24	104	---	---	---	---					
GAD2	2572	broad.mit.edu	37	10	26589876	26589876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:26589876delG	ENST00000376261.3	+	16	2247	c.1744delG	c.(1744-1746)gafs	p.G582fs	GAD2_ENST00000259271.3_Frame_Shift_Del_p.G582fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	582					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGAACGCCTTGGACAAGATTT	0.418													33	81	---	---	---	---					
LIPF	8513	broad.mit.edu	37	10	90427050	90427050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr10:90427050delC	ENST00000394375.3	+	3	139	c.26delC	c.(25-27)tcfs	p.S9fs	LIPF_ENST00000355843.2_5'UTR|LIPF_ENST00000238983.4_5'UTR	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	0					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TCAGGCAGGTCCAAAATGTGG	0.383													17	39	---	---	---	---					
OR4D9	390199	broad.mit.edu	37	11	59282573	59282574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr11:59282573_59282574insC	ENST00000329328.3	+	1	188_189	c.188_189insC	c.(187-189)ccgfs	p.P63fs		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TACTTCCTGCTCCGCAACCTGT	0.441													159	218	---	---	---	---					
BMS1P17	101101776	broad.mit.edu	37	14	19671610	19671611	+	RNA	INS	-	-	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr14:19671610_19671611insA	ENST00000418499.3	+	0	711				AL589743.2_ENST00000550512.1_lincRNA																							ATGGGTATAGCAAGATAAAAAT	0.366													14	62	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81737	81737	+	RNA	DEL	G	G	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:81737delG	ENST00000568710.1	-	0	434																											CCAACATCTTGGGCAGGCCAG	0.527													16	86	---	---	---	---					
PRKCB	5579	broad.mit.edu	37	16	24135178	24135178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:24135178delC	ENST00000303531.7	+	9	1093	c.941delC	c.(940-942)acfs	p.T314fs	PRKCB_ENST00000321728.7_Frame_Shift_Del_p.T314fs	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	314					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGTCAGGGAACCAAGGTCCCG	0.478													13	35	---	---	---	---					
N4BP1	9683	broad.mit.edu	37	16	48596175	48596176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr16:48596175_48596176insA	ENST00000262384.3	-	2	614_615	c.378_379insT	c.(376-381)gctggtfs	p.G127fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	127					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCCATGACCACAGCCTCAGCAC	0.446													17	35	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41847180	41847180	+	Frame_Shift_Del	DEL	G	G	-	rs138129767		TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:41847180delG	ENST00000226004.3	-	3	418	c.355delC	c.(355-357)ggfs	p.R119fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.R78fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	119	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		ACGAGCACCCGGCCTGTAAGA	0.572													17	65	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													7	333	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2666232	2666233	+	Splice_Site	INS	-	-	T			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr18:2666232_2666233insT	ENST00000320876.6	+	2	600		c.e2+1		SMCHD1_ENST00000261598.8_Splice_Site	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATAATTTTGGTAGGTAAACAG	0.267													7	11	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													3	6	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60887005	60887016	+	In_Frame_Del	DEL	ATGGGGGGCACC	ATGGGGGGCACC	-			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chr20:60887005_60887016delATGGGGGGCACC	ENST00000252999.3	-	70	9661_9672	c.9595_9606delGGTGCCCCCCAT	c.(9595-9606)del	p.GAPH3199del		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3199	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCGACGTAATGGGGGGCACCATCGGCGAAG	0.646													14	177	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53231100	53231101	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8207-01A-11D-2238-08	TCGA-55-8207-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5946020c-0d48-4e58-8208-70311a6e3cdf	e8cf99cf-0300-498f-aa61-1573bb895846	g.chrX:53231100_53231101insA	ENST00000452825.3	-	11	2132_2133	c.1600_1601insT	c.(1600-1602)ccafs	p.P534fs	KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.P601fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.P560fs|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.P601fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.P600fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	601	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCGCTGTGGTAAGCACGGGGG	0.520			"""N, F, S"""		clear cell renal carcinoma								47	26	---	---	---	---					
